-
1
-
-
79151477210
-
Factor XIII deficiency related recurrent spontaneous intracerebral hemorrhage: A case and literature review
-
Perez D. L., Diamond E. L., Castro C. M., et al. Factor XIII deficiency related recurrent spontaneous intracerebral hemorrhage: a case and literature review. Clin Neurol Neurosurg: 2011; 113 2 142 145
-
(2011)
Clin Neurol Neurosurg
, vol.113
, Issue.2
, pp. 142-145
-
-
Perez, D.L.1
Diamond, E.L.2
Castro, C.M.3
-
2
-
-
67749095010
-
Factor XIII deficiency
-
Karimi M., Bereczky Z., Cohan N., Muszbek L. Factor XIII deficiency. Semin Thromb Hemost: 2009; 35 4 426 438
-
(2009)
Semin Thromb Hemost
, vol.35
, Issue.4
, pp. 426-438
-
-
Karimi, M.1
Bereczky, Z.2
Cohan, N.3
Muszbek, L.4
-
3
-
-
79960076132
-
Factor XIII: A coagulation factor with multiple plasmatic and cellular functions
-
Muszbek L., Bereczky Z., Bagoly Z., Komáromi I., Katona E. Factor XIII: a coagulation factor with multiple plasmatic and cellular functions. Physiol Rev: 2011; 91 3 931 972
-
(2011)
Physiol Rev
, vol.91
, Issue.3
, pp. 931-972
-
-
Muszbek, L.1
Bereczky, Z.2
Bagoly, Z.3
Komáromi, I.4
Katona, E.5
-
4
-
-
79952178145
-
Molecular mechanisms affecting fibrin structure and stability
-
Lord S. T. Molecular mechanisms affecting fibrin structure and stability. Arterioscler Thromb Vasc Biol: 2011; 31 3 494 499
-
(2011)
Arterioscler Thromb Vasc Biol
, vol.31
, Issue.3
, pp. 494-499
-
-
Lord, S.T.1
-
6
-
-
23744456948
-
Impaired wound healing in factor XIII deficient mice
-
Inbal A., Lubetsky A., Krapp T., et al. Impaired wound healing in factor XIII deficient mice. Thromb Haemost: 2005; 94 2 432 437
-
(2005)
Thromb Haemost
, vol.94
, Issue.2
, pp. 432-437
-
-
Inbal, A.1
Lubetsky, A.2
Krapp, T.3
-
8
-
-
22944478014
-
Congenital blood coagulation factor XIII deficiency and perinatal management
-
Ichinose A., Asahina T., Kobayashi T. Congenital blood coagulation factor XIII deficiency and perinatal management. Curr Drug Targets: 2005; 6 5 541 549
-
(2005)
Curr Drug Targets
, vol.6
, Issue.5
, pp. 541-549
-
-
Ichinose, A.1
Asahina, T.2
Kobayashi, T.3
-
9
-
-
84873543245
-
New developments in the area of factor XIII
-
Schroeder V., Kohler H. P. New developments in the area of factor XIII. J Thromb Haemost: 2013; 11 2 234 244
-
(2013)
J Thromb Haemost
, vol.11
, Issue.2
, pp. 234-244
-
-
Schroeder, V.1
Kohler, H.P.2
-
10
-
-
17144445992
-
Delayed umbilical bleeding-a presenting feature for factor XIII deficiency: Clinical features, genetics, and management
-
Anwar R., Minford A., Gallivan L., Trinh C. H., Markham A. F. Delayed umbilical bleeding-a presenting feature for factor XIII deficiency: clinical features, genetics, and management. Pediatrics: 2002; 109 2 E32
-
(2002)
Pediatrics
, vol.109
, Issue.2
-
-
Anwar, R.1
Minford, A.2
Gallivan, L.3
Trinh, C.H.4
Markham, A.F.5
-
11
-
-
33947268119
-
A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency
-
Duckert F., Jung E., Shmerling D. H. A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thromb Diath Haemorrh: 1960; 5 179 186
-
(1960)
Thromb Diath Haemorrh
, vol.5
, pp. 179-186
-
-
Duckert, F.1
Jung, E.2
Shmerling, D.H.3
-
12
-
-
1642336686
-
On the solubility of fibrin clots
-
Laki K., Lóránd L. On the solubility of fibrin clots. Science: 1948; 108 2802 280
-
(1948)
Science
, vol.108
, Issue.2802
, pp. 280
-
-
Laki, K.1
Lóránd, L.2
-
13
-
-
33645539709
-
Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder
-
Schroeder V., Meili E., Cung T., Schmutz P., Kohler H. P. Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder. Thromb Haemost: 2006; 95 1 77 84
-
(2006)
Thromb Haemost
, vol.95
, Issue.1
, pp. 77-84
-
-
Schroeder, V.1
Meili, E.2
Cung, T.3
Schmutz, P.4
Kohler, H.P.5
-
14
-
-
0009479529
-
Factor XIII deficiency
-
Anwar R., Miloszewski K. J. Factor XIII deficiency. Br J Haematol: 1999; 107 3 468 484
-
(1999)
Br J Haematol
, vol.107
, Issue.3
, pp. 468-484
-
-
Anwar, R.1
Miloszewski, K.J.2
-
15
-
-
0027729953
-
Factor XIII: Inherited and acquired deficiency
-
Board P. G., Losowsky M. S., Miloszewski K. J. Factor XIII: inherited and acquired deficiency. Blood Rev: 1993; 7 4 229 242
-
(1993)
Blood Rev
, vol.7
, Issue.4
, pp. 229-242
-
-
Board, P.G.1
Losowsky, M.S.2
Miloszewski, K.J.3
-
16
-
-
80051781189
-
Novel aspects of factor XIII deficiency
-
Muszbek L., Bagoly Z., Cairo A., Peyvandi F. Novel aspects of factor XIII deficiency. Curr Opin Hematol: 2011; 18 5 366 372
-
(2011)
Curr Opin Hematol
, vol.18
, Issue.5
, pp. 366-372
-
-
Muszbek, L.1
Bagoly, Z.2
Cairo, A.3
Peyvandi, F.4
-
17
-
-
0036588699
-
Rare coagulation deficiencies
-
Peyvandi F., Duga S., Akhavan S., Mannucci P. M. Rare coagulation deficiencies. Haemophilia: 2002; 8 3 308 321
-
(2002)
Haemophilia
, vol.8
, Issue.3
, pp. 308-321
-
-
Peyvandi, F.1
Duga, S.2
Akhavan, S.3
Mannucci, P.M.4
-
18
-
-
80051671241
-
An update of the mutation profile of Factor 13 A and B genes
-
Biswas A., Ivaskevicius V., Seitz R., Thomas A., Oldenburg J. An update of the mutation profile of Factor 13 A and B genes. Blood Rev: 2011; 25 5 193 204
-
(2011)
Blood Rev
, vol.25
, Issue.5
, pp. 193-204
-
-
Biswas, A.1
Ivaskevicius, V.2
Seitz, R.3
Thomas, A.4
Oldenburg, J.5
-
19
-
-
0027175815
-
Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII
-
Hashiguchi T., Saito M., Morishita E., Matsuda T., Ichinose A. Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. Blood: 1993; 82 1 145 150
-
(1993)
Blood
, vol.82
, Issue.1
, pp. 145-150
-
-
Hashiguchi, T.1
Saito, M.2
Morishita, E.3
Matsuda, T.4
Ichinose, A.5
-
20
-
-
0035353185
-
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation
-
Koseki S., Souri M., Koga S., et al. Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. Blood: 2001; 97 9 2667 2672
-
(2001)
Blood
, vol.97
, Issue.9
, pp. 2667-2672
-
-
Koseki, S.1
Souri, M.2
Koga, S.3
-
21
-
-
0029947440
-
Type i factor XIII deficiency is caused by a genetic defect of its b subunit: Insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain
-
Izumi T., Hashiguchi T., Castaman G., et al. Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain. Blood: 1996; 87 7 2769 2774
-
(1996)
Blood
, vol.87
, Issue.7
, pp. 2769-2774
-
-
Izumi, T.1
Hashiguchi, T.2
Castaman, G.3
-
22
-
-
0031873579
-
A founder effect is proposed for factor XIII B subunit deficiency caused by the insertion of triplet AAC in exon III encoding the second Sushi domain
-
Souri M., Izumi T., Higashi Y., Girolami A., Ichinose A. A founder effect is proposed for factor XIII B subunit deficiency caused by the insertion of triplet AAC in exon III encoding the second Sushi domain. Thromb Haemost: 1998; 80 2 211 213
-
(1998)
Thromb Haemost
, vol.80
, Issue.2
, pp. 211-213
-
-
Souri, M.1
Izumi, T.2
Higashi, Y.3
Girolami, A.4
Ichinose, A.5
-
23
-
-
77953218984
-
Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: Results of a genetic study in 14 families with factor XIII B deficiency
-
Ivaskevicius V., Biswas A., Loreth R., et al. Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency. Haemophilia: 2010; 16 4 675 682
-
(2010)
Haemophilia
, vol.16
, Issue.4
, pp. 675-682
-
-
Ivaskevicius, V.1
Biswas, A.2
Loreth, R.3
-
24
-
-
34250758556
-
International registry on factor XIII deficiency: A basis formed mostly on European data
-
Study Group
-
Ivaskevicius V., Seitz R., Kohler H. P., et al. Study Group International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost: 2007; 97 6 914 921
-
(2007)
Thromb Haemost
, vol.97
, Issue.6
, pp. 914-921
-
-
Ivaskevicius, V.1
Seitz, R.2
Kohler, H.P.3
-
25
-
-
79959821022
-
Diagnosis and classification of factor XIII deficiencies
-
Factor XIII and Fibrinogen SSC Subcommittee of the ISTH
-
Kohler H. P., Ichinose A., Seitz R., Ariens R. AS, Muszbek L. Factor XIII and Fibrinogen SSC Subcommittee of the ISTH Diagnosis and classification of factor XIII deficiencies. J Thromb Haemost: 2011; 9 7 1404 1406
-
(2011)
J Thromb Haemost
, vol.9
, Issue.7
, pp. 1404-1406
-
-
Kohler, H.P.1
Ichinose, A.2
Seitz, R.3
Ariens, R.A.4
Muszbek, L.5
-
26
-
-
84873534218
-
Identification of two novel missense mutations in F13A gene affecting thrombin cleavage site (Arg37) of factor XIII A-subunit
-
[abstract ED20-5, A22]
-
Ivaskevicius V., Biswas A., Thomas A., et al. Identification of two novel missense mutations in F13A gene affecting thrombin cleavage site (Arg37) of factor XIII A-subunit. Hamostaseologie: 2012; 32 1 A2 A107 [abstract ED20-5, A22]
-
(2012)
Hamostaseologie
, vol.32
, Issue.1
-
-
Ivaskevicius, V.1
Biswas, A.2
Thomas, A.3
-
27
-
-
0008444519
-
-
In: Mosesson M.W. ed. Fibrinogen-Biochemistry, Biological Functions, Gene Regulation and Expression Amsterdam Elsevier
-
Egbring R., Seitz R., Gürten G. V., Köther M., Barthels M., Fuchs G. Bleeding complications in heterozygotes with congenital factor XIII deficiency. In: Mosesson M. W. ed. Fibrinogen-Biochemistry, Biological Functions, Gene Regulation and Expression. Amsterdam Elsevier: 1988; 341 346
-
(1988)
Bleeding Complications in Heterozygotes with Congenital Factor XIII Deficiency
, pp. 341-346
-
-
Egbring, R.1
Seitz, R.2
Gürten, G.V.3
Köther, M.4
Barthels, M.5
Fuchs, G.6
-
28
-
-
8044259620
-
ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: Status and perspectives
-
Study Group
-
Seitz R., Duckert F., Lopaciuk S., Muszbek L., Rodeghiero F., Seligsohn U. Study Group ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: status and perspectives. Semin Thromb Hemost: 1996; 22 5 415 418
-
(1996)
Semin Thromb Hemost
, vol.22
, Issue.5
, pp. 415-418
-
-
Seitz, R.1
Duckert, F.2
Lopaciuk, S.3
Muszbek, L.4
Rodeghiero, F.5
Seligsohn, U.6
-
29
-
-
79960698672
-
Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran
-
Mahmoodi M., Peyvandi F., Afrasiabi A., Ghaffarpasand F., Karimi M. Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran. Blood Coagul Fibrinolysis: 2011; 22 5 396 401
-
(2011)
Blood Coagul Fibrinolysis
, vol.22
, Issue.5
, pp. 396-401
-
-
Mahmoodi, M.1
Peyvandi, F.2
Afrasiabi, A.3
Ghaffarpasand, F.4
Karimi, M.5
-
30
-
-
84862883345
-
Difficulties and pitfalls in the laboratory diagnosis of bleeding disorders
-
04
-
Bolton-Maggs P. H., Favaloro E. J., Hillarp A., Jennings I., Kohler H. P. Difficulties and pitfalls in the laboratory diagnosis of bleeding disorders. Haemophilia: 2012; 18 04 66 72
-
(2012)
Haemophilia
, vol.18
, pp. 66-72
-
-
Bolton-Maggs, P.H.1
Favaloro, E.J.2
Hillarp, A.3
Jennings, I.4
Kohler, H.P.5
-
31
-
-
0033636292
-
A modified, optimized kinetic photometric assay for the determination of blood coagulation factor XIII activity in plasma
-
Kárpáti L., Penke B., Katona E., Balogh I., Vámosi G., Muszbek L. A modified, optimized kinetic photometric assay for the determination of blood coagulation factor XIII activity in plasma. Clin Chem: 2000; 46 12 1946 1955
-
(2000)
Clin Chem
, vol.46
, Issue.12
, pp. 1946-1955
-
-
Kárpáti, L.1
Penke, B.2
Katona, E.3
Balogh, I.4
Vámosi, G.5
Muszbek, L.6
-
32
-
-
0035311193
-
Evaluation of a sensitive colorimetric FXIII incorporation assay. Effects of FXIII Val34Leu, plasma fibrinogen concentration and congenital FXIII deficiency
-
Wilmer M., Rudin K., Kolde H., et al. Evaluation of a sensitive colorimetric FXIII incorporation assay. Effects of FXIII Val34Leu, plasma fibrinogen concentration and congenital FXIII deficiency. Thromb Res: 2001; 102 1 81 91
-
(2001)
Thromb Res
, vol.102
, Issue.1
, pp. 81-91
-
-
Wilmer, M.1
Rudin, K.2
Kolde, H.3
-
33
-
-
21644441385
-
Kinetic spectrophotometric factor XIII activity assays: The subtraction of plasma blank is not omissible [corrected]
-
Ajzner E., Muszbek L. Kinetic spectrophotometric factor XIII activity assays: the subtraction of plasma blank is not omissible [corrected]. J Thromb Haemost: 2004; 2 11 2075 2077
-
(2004)
J Thromb Haemost
, vol.2
, Issue.11
, pp. 2075-2077
-
-
Ajzner, E.1
Muszbek, L.2
-
34
-
-
79961066578
-
Hemorrhagic acquired factor XIII (13) deficiency and acquired hemorrhaphilia 13 revisited
-
Ichinose A. Hemorrhagic acquired factor XIII (13) deficiency and acquired hemorrhaphilia 13 revisited. Semin Thromb Hemost: 2011; 37 4 382 388
-
(2011)
Semin Thromb Hemost
, vol.37
, Issue.4
, pp. 382-388
-
-
Ichinose, A.1
-
35
-
-
0036284022
-
Increased risk for postoperative hemorrhage after intracranial surgery in patients with decreased factor XIII activity: Implications of a prospective study
-
Gerlach R., Tölle F., Raabe A., Zimmermann M., Siegemund A., Seifert V. Increased risk for postoperative hemorrhage after intracranial surgery in patients with decreased factor XIII activity: implications of a prospective study. Stroke: 2002; 33 6 1618 1623
-
(2002)
Stroke
, vol.33
, Issue.6
, pp. 1618-1623
-
-
Gerlach, R.1
Tölle, F.2
Raabe, A.3
Zimmermann, M.4
Siegemund, A.5
Seifert, V.6
-
36
-
-
0141651882
-
Role of blood coagulation factor XIII in patients with acute pulmonary embolism. Correlation of factor XIII antigen levels with pulmonary occlusion rate, fibrinogen, D-dimer, and clot firmness
-
Kucher N., Schroeder V., Kohler H. P. Role of blood coagulation factor XIII in patients with acute pulmonary embolism. Correlation of factor XIII antigen levels with pulmonary occlusion rate, fibrinogen, D-dimer, and clot firmness. Thromb Haemost: 2003; 90 3 434 438
-
(2003)
Thromb Haemost
, vol.90
, Issue.3
, pp. 434-438
-
-
Kucher, N.1
Schroeder, V.2
Kohler, H.P.3
-
37
-
-
0036041874
-
Factor XIII A-subunit concentration predicts outcome in stroke subjects and vascular outcome in healthy, middle-aged men
-
Kohler H. P., Ariëns R. AS, Catto A. J., et al. Factor XIII A-subunit concentration predicts outcome in stroke subjects and vascular outcome in healthy, middle-aged men. Br J Haematol: 2002; 118 3 825 832
-
(2002)
Br J Haematol
, vol.118
, Issue.3
, pp. 825-832
-
-
Kohler, H.P.1
Ariëns, R.A.2
Catto, A.J.3
-
38
-
-
0028590053
-
Ulcerative colitis and Crohn's disease: Factor XIII, inflammation and haemostasis
-
Seitz R., Leugner F., Katschinski M., et al. Ulcerative colitis and Crohn's disease: factor XIII, inflammation and haemostasis. Digestion: 1994; 55 6 361 367
-
(1994)
Digestion
, vol.55
, Issue.6
, pp. 361-367
-
-
Seitz, R.1
Leugner, F.2
Katschinski, M.3
-
39
-
-
33845571245
-
Factor XIII in severe sepsis and septic shock
-
Zeerleder S., Schroeder V., Lämmle B., Wuillemin W. A., Hack C. E., Kohler H. P. Factor XIII in severe sepsis and septic shock. Thromb Res: 2007; 119 3 311 318
-
(2007)
Thromb Res
, vol.119
, Issue.3
, pp. 311-318
-
-
Zeerleder, S.1
Schroeder, V.2
Lämmle, B.3
Wuillemin, W.A.4
Hack, C.E.5
Kohler, H.P.6
-
40
-
-
84875277374
-
Hemorrhagic-acquired factor XIII deficiency associated with tocilizumab for treatment of rheumatoid arthritis
-
Matsuoka M., Majima T., Onodera T., et al. Hemorrhagic-acquired factor XIII deficiency associated with tocilizumab for treatment of rheumatoid arthritis. Int J Hematol: 2012; 96 6 781 785
-
(2012)
Int J Hematol
, vol.96
, Issue.6
, pp. 781-785
-
-
Matsuoka, M.1
Majima, T.2
Onodera, T.3
-
41
-
-
0015368559
-
Haemorrhagic syndrome of autoimmune origin with a specific inhibitor against fibrin stabilizing factor (factor XIII)
-
Lorand L., Maldonado N., Fradera J., Atencio A. C., Robertson B., Urayama T. Haemorrhagic syndrome of autoimmune origin with a specific inhibitor against fibrin stabilizing factor (factor XIII). Br J Haematol: 1972; 23 1 17 27
-
(1972)
Br J Haematol
, vol.23
, Issue.1
, pp. 17-27
-
-
Lorand, L.1
Maldonado, N.2
Fradera, J.3
Atencio, A.C.4
Robertson, B.5
Urayama, T.6
-
42
-
-
0023841250
-
Autoimmune antibody (IgG Kansas) against the fibrin stabilizing factor (factor XIII) system
-
Lorand L., Velasco P. T., Rinne J. R., Amare M., Miller L. K., Zucker M. L. Autoimmune antibody (IgG Kansas) against the fibrin stabilizing factor (factor XIII) system. Proc Natl Acad Sci U S A: 1988; 85 1 232 236
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, Issue.1
, pp. 232-236
-
-
Lorand, L.1
Velasco, P.T.2
Rinne, J.R.3
Amare, M.4
Miller, L.K.5
Zucker, M.L.6
-
43
-
-
0026593429
-
A unique factor XIII inhibitor to a fibrin-binding site on factor XIIIA
-
Fukue H., Anderson K., McPhedran P., Clyne L., McDonagh J. A unique factor XIII inhibitor to a fibrin-binding site on factor XIIIA. Blood: 1992; 79 1 65 74
-
(1992)
Blood
, vol.79
, Issue.1
, pp. 65-74
-
-
Fukue, H.1
Anderson, K.2
McPhedran, P.3
Clyne, L.4
McDonagh, J.5
-
44
-
-
84863219177
-
A case of acquired FXIII deficiency with severe bleeding symptoms
-
Hayashi T., Kadohira Y., Morishita E., Asakura H., Souri M., Ichinose A. A case of acquired FXIII deficiency with severe bleeding symptoms. Haemophilia: 2012; 18 4 618 620
-
(2012)
Haemophilia
, vol.18
, Issue.4
, pp. 618-620
-
-
Hayashi, T.1
Kadohira, Y.2
Morishita, E.3
Asakura, H.4
Souri, M.5
Ichinose, A.6
-
45
-
-
84871807326
-
Aggressive fatal case of autoimmune hemorrhaphilia resulting from anti-Factor XIII antibodies
-
Sugiyama H., Uesugi H., Suzuki S., Tanaka K., Souri M., Ichinose A. Aggressive fatal case of autoimmune hemorrhaphilia resulting from anti-Factor XIII antibodies. Blood Coagul Fibrinolysis: 2013; 24 1 85 89
-
(2013)
Blood Coagul Fibrinolysis
, vol.24
, Issue.1
, pp. 85-89
-
-
Sugiyama, H.1
Uesugi, H.2
Suzuki, S.3
Tanaka, K.4
Souri, M.5
Ichinose, A.6
-
46
-
-
60249088087
-
Severe bleeding complications caused by an autoantibody against the B subunit of plasma factor XIII: A novel form of acquired factor XIII deficiency
-
Ajzner E., Schlammadinger A., Kerényi A., et al. Severe bleeding complications caused by an autoantibody against the B subunit of plasma factor XIII: a novel form of acquired factor XIII deficiency. Blood: 2009; 113 3 723 725
-
(2009)
Blood
, vol.113
, Issue.3
, pp. 723-725
-
-
Ajzner, E.1
Schlammadinger, A.2
Kerényi, A.3
-
47
-
-
84874789555
-
Acquired factor XIII deficiency: A therapeutic challenge
-
Boehlen F., Casini A., Chizzolini C., et al. Acquired factor XIII deficiency: a therapeutic challenge. Thromb Haemost: 2013; 109 3 479 487
-
(2013)
Thromb Haemost
, vol.109
, Issue.3
, pp. 479-487
-
-
Boehlen, F.1
Casini, A.2
Chizzolini, C.3
-
48
-
-
33646047168
-
Prophylaxis in rare coagulation disorders-factor XIII deficiency
-
01
-
Nugent D. J. Prophylaxis in rare coagulation disorders-factor XIII deficiency. Thromb Res: 2006; 118 01 S23 S28
-
(2006)
Thromb Res
, vol.118
-
-
Nugent, D.J.1
-
49
-
-
84861796622
-
Recombinant factor XIII: A safe and novel treatment for congenital factor XIII deficiency
-
Inbal A., Oldenburg J., Carcao M., Rosholm A., Tehranchi R., Nugent D. Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. Blood: 2012; 119 22 5111 5117
-
(2012)
Blood
, vol.119
, Issue.22
, pp. 5111-5117
-
-
Inbal, A.1
Oldenburg, J.2
Carcao, M.3
Rosholm, A.4
Tehranchi, R.5
Nugent, D.6
-
50
-
-
84861824336
-
Novel treatment for congenital FXIII deficiency
-
Kohler H. P. Novel treatment for congenital FXIII deficiency. Blood: 2012; 119 22 5060 5061
-
(2012)
Blood
, vol.119
, Issue.22
, pp. 5060-5061
-
-
Kohler, H.P.1
-
51
-
-
0028965728
-
Mutations causing coagulation factor XIII subunit A deficiency: Characterization of the mutant proteins after expression in yeast
-
Coggan M., Baker R., Miloszewski K., Woodfield G., Board P. Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. Blood: 1995; 85 9 2455 2460
-
(1995)
Blood
, vol.85
, Issue.9
, pp. 2455-2460
-
-
Coggan, M.1
Baker, R.2
Miloszewski, K.3
Woodfield, G.4
Board, P.5
-
52
-
-
1542468827
-
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency
-
Peyvandi F., Tagliabue L., Menegatti M., et al. Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. Hum Mutat: 2004; 23 1 98
-
(2004)
Hum Mutat
, vol.23
, Issue.1
, pp. 98
-
-
Peyvandi, F.1
Tagliabue, L.2
Menegatti, M.3
-
53
-
-
33646851593
-
Identification of a novel mutation combination in factor XIII deficiency: Genetic update to the first reported case in the United States
-
Halverstadt A., Walsh S., Roth S. M., Ferrell R. E., Hagberg J. M. Identification of a novel mutation combination in factor XIII deficiency: genetic update to the first reported case in the United States. Int J Hematol: 2006; 83 2 144 146
-
(2006)
Int J Hematol
, vol.83
, Issue.2
, pp. 144-146
-
-
Halverstadt, A.1
Walsh, S.2
Roth, S.M.3
Ferrell, R.E.4
Hagberg, J.M.5
-
54
-
-
77953196987
-
Identification of eight novel coagulation factor XIII subunit A mutations: Implied consequences for structure and function
-
Ivaskevicius V., Biswas A., Bevans C., et al. Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. Haematologica: 2010; 95 6 956 962
-
(2010)
Haematologica
, vol.95
, Issue.6
, pp. 956-962
-
-
Ivaskevicius, V.1
Biswas, A.2
Bevans, C.3
-
55
-
-
37749009994
-
Molecular characterization of five Italian families with inherited severe factor XIII deficiency
-
Castaman G., Giacomelli S. H., Ivaskevicius V., et al. Molecular characterization of five Italian families with inherited severe factor XIII deficiency. Haemophilia: 2008; 14 1 96 102
-
(2008)
Haemophilia
, vol.14
, Issue.1
, pp. 96-102
-
-
Castaman, G.1
Giacomelli, S.H.2
Ivaskevicius, V.3
-
56
-
-
39049106677
-
Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran
-
Trinh C. H., Sh Elsayed W., Eshghi P., et al. Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran. Br J Haematol: 2008; 140 5 581 584
-
(2008)
Br J Haematol
, vol.140
, Issue.5
, pp. 581-584
-
-
Trinh, C.H.1
Sh Elsayed, W.2
Eshghi, P.3
-
57
-
-
13244253696
-
Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families
-
Vysokovsky A., Saxena R., Landau M., et al. Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. J Thromb Haemost: 2004; 2 10 1790 1797
-
(2004)
J Thromb Haemost
, vol.2
, Issue.10
, pp. 1790-1797
-
-
Vysokovsky, A.1
Saxena, R.2
Landau, M.3
-
58
-
-
33646092519
-
Effect of four missense mutations in the factor XIII A-subunit gene on protein stability: Studies with recombinant proteins
-
Vysokovsky A., Rosenberg N., Dardik R., Seligsohn U., Inbal A. Effect of four missense mutations in the factor XIII A-subunit gene on protein stability: studies with recombinant proteins. Blood Coagul Fibrinolysis: 2006; 17 2 125 130
-
(2006)
Blood Coagul Fibrinolysis
, vol.17
, Issue.2
, pp. 125-130
-
-
Vysokovsky, A.1
Rosenberg, N.2
Dardik, R.3
Seligsohn, U.4
Inbal, A.5
-
59
-
-
0038460708
-
Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients
-
Birben E., Oner C., Oner R., Altay C., Gürgey A. Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients. Eur J Haematol: 2003; 71 1 39 43
-
(2003)
Eur J Haematol
, vol.71
, Issue.1
, pp. 39-43
-
-
Birben, E.1
Oner, C.2
Oner, R.3
Altay, C.4
Gürgey, A.5
-
60
-
-
0028233152
-
Deficiency in the A-subunit of coagulation factor XIII: Two novel point mutations demonstrate different effects on transcript levels
-
Mikkola H., Syrjälä M., Rasi V., et al. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood: 1994; 84 2 517 525
-
(1994)
Blood
, vol.84
, Issue.2
, pp. 517-525
-
-
Mikkola, H.1
Syrjälä, M.2
Rasi, V.3
-
61
-
-
13344261413
-
Four novel mutations in deficiency of coagulation factor XIII: Consequences to expression and structure of the A-subunit
-
Mikkola H., Yee V. C., Syrjälä M., et al. Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. Blood: 1996; 87 1 141 151
-
(1996)
Blood
, vol.87
, Issue.1
, pp. 141-151
-
-
Mikkola, H.1
Yee, V.C.2
Syrjälä, M.3
-
62
-
-
0032928266
-
Identification and characterization of two missense mutations causing factor XIIIA deficiency
-
Kangsadalampai S., Chelvanayagam G., Baker R., Tiedemann K., Kuperan P., Board P. G. Identification and characterization of two missense mutations causing factor XIIIA deficiency. Br J Haematol: 1999; 104 1 37 43
-
(1999)
Br J Haematol
, vol.104
, Issue.1
, pp. 37-43
-
-
Kangsadalampai, S.1
Chelvanayagam, G.2
Baker, R.3
Tiedemann, K.4
Kuperan, P.5
Board, P.G.6
-
63
-
-
0031864267
-
Arg260-Cys mutation in severe factor XIII deficiency: Conformational change of the A subunit is predicted by molecular modelling and mechanics
-
Ichinose A., Tsukamoto H., Izumi T., et al. Arg260-Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics. Br J Haematol: 1998; 101 2 264 272
-
(1998)
Br J Haematol
, vol.101
, Issue.2
, pp. 264-272
-
-
Ichinose, A.1
Tsukamoto, H.2
Izumi, T.3
-
64
-
-
24644524055
-
Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family
-
Onland W., Böing A. N., Meijer A. B., et al. Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family. Haemophilia: 2005; 11 5 539 547
-
(2005)
Haemophilia
, vol.11
, Issue.5
, pp. 539-547
-
-
Onland, W.1
Böing, A.N.2
Meijer, A.B.3
-
65
-
-
33645535436
-
Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach
-
Jayandharan G. R., Viswabandya A., Baidya S., et al. Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach. Thromb Haemost: 2006; 95 3 551 556
-
(2006)
Thromb Haemost
, vol.95
, Issue.3
, pp. 551-556
-
-
Jayandharan, G.R.1
Viswabandya, A.2
Baidya, S.3
-
66
-
-
0035856515
-
Impaired protein folding, dimer formation, and heterotetramer assembly cause intra- and extracellular instability of a Y283C mutant of the A subunit for coagulation factor XIII
-
Souri M., Ichinose A. Impaired protein folding, dimer formation, and heterotetramer assembly cause intra- and extracellular instability of a Y283C mutant of the A subunit for coagulation factor XIII. Biochemistry: 2001; 40 45 13413 13420
-
(2001)
Biochemistry
, vol.40
, Issue.45
, pp. 13413-13420
-
-
Souri, M.1
Ichinose, A.2
-
67
-
-
0034983387
-
Novel Y283C mutation of the A subunit for coagulation factor XIII: Molecular modelling predicts its impaired protein folding and dimer formation
-
Souri M., Yee V. C., Kasai K., et al. Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation. Br J Haematol: 2001; 113 3 652 654
-
(2001)
Br J Haematol
, vol.113
, Issue.3
, pp. 652-654
-
-
Souri, M.1
Yee, V.C.2
Kasai, K.3
-
68
-
-
0033789808
-
Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene
-
Anwar R., Gallivan L., Miloszewski K. J., Markham A. F. Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene. Thromb Haemost: 2000; 84 4 591 594
-
(2000)
Thromb Haemost
, vol.84
, Issue.4
, pp. 591-594
-
-
Anwar, R.1
Gallivan, L.2
Miloszewski, K.J.3
Markham, A.F.4
-
69
-
-
0035128618
-
Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency
-
Gómez García E. B., Poort S. R., Stibbe J., et al. Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. Br J Haematol: 2001; 112 2 513 518
-
(2001)
Br J Haematol
, vol.112
, Issue.2
, pp. 513-518
-
-
Gómez García, E.B.1
Poort, S.R.2
Stibbe, J.3
-
70
-
-
0030845153
-
Molecular mechanisms of mutations in factor XIII A-subunit deficiency: In vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins
-
Mikkola H., Muszbek L., Haramura G., Hämäläinen E., Jalanko A., Palotie A. Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins. Thromb Haemost: 1997; 77 6 1068 1072
-
(1997)
Thromb Haemost
, vol.77
, Issue.6
, pp. 1068-1072
-
-
Mikkola, H.1
Muszbek, L.2
Haramura, G.3
Hämäläinen, E.4
Jalanko, A.5
Palotie, A.6
-
71
-
-
0035121444
-
Identification of a new Leu354Pro mutation responsible for factor XIII deficiency
-
Anwar R., Gallivan L., Trinh C., Hill F., Markham A. Identification of a new Leu354Pro mutation responsible for factor XIII deficiency. Eur J Haematol: 2001; 66 2 133 136
-
(2001)
Eur J Haematol
, vol.66
, Issue.2
, pp. 133-136
-
-
Anwar, R.1
Gallivan, L.2
Trinh, C.3
Hill, F.4
Markham, A.5
-
72
-
-
34548303711
-
Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: Identification of three novel mutations
-
Ivaskevicius V., Windyga J., Baran B., et al. Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations. Haemophilia: 2007; 13 5 649 657
-
(2007)
Haemophilia
, vol.13
, Issue.5
, pp. 649-657
-
-
Ivaskevicius, V.1
Windyga, J.2
Baran, B.3
-
73
-
-
0031888016
-
Novel deletion and insertion mutations cause splicing defects, leading to severe reduction in mRNA levels of the A subunit in severe factor XIII deficiency
-
Izumi T., Nagaoka U., Saito T., Takamatsu J., Saito H., Ichinose A. Novel deletion and insertion mutations cause splicing defects, leading to severe reduction in mRNA levels of the A subunit in severe factor XIII deficiency. Thromb Haemost: 1998; 79 3 479 485
-
(1998)
Thromb Haemost
, vol.79
, Issue.3
, pp. 479-485
-
-
Izumi, T.1
Nagaoka, U.2
Saito, T.3
Takamatsu, J.4
Saito, H.5
Ichinose, A.6
-
74
-
-
0031975947
-
Identification of a large deletion, spanning exons 4 to 11 of the human factor XIIIA gene, in a factor XIII-deficient family
-
Anwar R., Miloszewski K. J., Markham A. F. Identification of a large deletion, spanning exons 4 to 11 of the human factor XIIIA gene, in a factor XIII-deficient family. Blood: 1998; 91 1 149 153
-
(1998)
Blood
, vol.91
, Issue.1
, pp. 149-153
-
-
Anwar, R.1
Miloszewski, K.J.2
Markham, A.F.3
-
75
-
-
0033375488
-
A complete deficiency of coagulation factor XIII A-subunit due to a novel compound heterozygote of ser 413 Leu missense and an nt 389 (ins G) frameshift mutation
-
Niiya T., Osawa H., Bando S., et al. A complete deficiency of coagulation factor XIII A-subunit due to a novel compound heterozygote of Ser 413 Leu missense and an nt 389 (ins G) frameshift mutation. Br J Haematol: 1999; 107 4 772 775
-
(1999)
Br J Haematol
, vol.107
, Issue.4
, pp. 772-775
-
-
Niiya, T.1
Osawa, H.2
Bando, S.3
-
76
-
-
0142025565
-
Deficiency of factor XIII gene in Chinese: 3 novel mutations
-
Duan B., Wang X., Chu H., et al. Deficiency of factor XIII gene in Chinese: 3 novel mutations. Int J Hematol: 2003; 78 3 251 255
-
(2003)
Int J Hematol
, vol.78
, Issue.3
, pp. 251-255
-
-
Duan, B.1
Wang, X.2
Chu, H.3
-
77
-
-
0030771138
-
Structural analysis of a missense mutation (Val414Phe) in the catalytic core domain of the factor XIII(A) subunit
-
Aslam S., Yee V. C., Narayanan S., Duraisamy G., Standen G. R. Structural analysis of a missense mutation (Val414Phe) in the catalytic core domain of the factor XIII(A) subunit. Br J Haematol: 1997; 98 2 346 352
-
(1997)
Br J Haematol
, vol.98
, Issue.2
, pp. 346-352
-
-
Aslam, S.1
Yee, V.C.2
Narayanan, S.3
Duraisamy, G.4
Standen, G.R.5
-
78
-
-
0033819617
-
Identification of a new mutation (Gly420Ser), distal to the active site, that leads to factor XIII deficiency
-
Kangsadalampai S., Yenchitsomanus P., Chelvanayagam G., Sawasdee N., Laosombat V., Board P. Identification of a new mutation (Gly420Ser), distal to the active site, that leads to factor XIII deficiency. Eur J Haematol: 2000; 65 4 279 284
-
(2000)
Eur J Haematol
, vol.65
, Issue.4
, pp. 279-284
-
-
Kangsadalampai, S.1
Yenchitsomanus, P.2
Chelvanayagam, G.3
Sawasdee, N.4
Laosombat, V.5
Board, P.6
-
79
-
-
0031753441
-
Splicing and missense mutations in the human FXIIIA gene causing FXIII deficiency: Effects of these mutations on FXIIIA RNA processing and protein structure
-
Anwar R., Gallivan L., Miloszewski K. J., Markham A. F. Splicing and missense mutations in the human FXIIIA gene causing FXIII deficiency: effects of these mutations on FXIIIA RNA processing and protein structure. Br J Haematol: 1998; 103 2 425 428
-
(1998)
Br J Haematol
, vol.103
, Issue.2
, pp. 425-428
-
-
Anwar, R.1
Gallivan, L.2
Miloszewski, K.J.3
Markham, A.F.4
-
80
-
-
0032523163
-
Molecular mechanisms of type II factor XIII deficiency: Novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system
-
Takahashi N., Tsukamoto H., Umeyama H., Castaman G., Rodeghiero F., Ichinose A. Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system. Blood: 1998; 91 8 2830 2838
-
(1998)
Blood
, vol.91
, Issue.8
, pp. 2830-2838
-
-
Takahashi, N.1
Tsukamoto, H.2
Umeyama, H.3
Castaman, G.4
Rodeghiero, F.5
Ichinose, A.6
-
81
-
-
0030791209
-
Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families
-
Inbal A., Yee V. C., Kornbrot N., Zivelin A., Brenner B., Seligsohn U. Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families. Thromb Haemost: 1997; 77 6 1062 1067
-
(1997)
Thromb Haemost
, vol.77
, Issue.6
, pp. 1062-1067
-
-
Inbal, A.1
Yee, V.C.2
Kornbrot, N.3
Zivelin, A.4
Brenner, B.5
Seligsohn, U.6
-
82
-
-
0028973614
-
Factor XIIIA Calgary: A candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit
-
Aslam S., Poon M. C., Yee V. C., Bowen D. J., Standen G. R. Factor XIIIA Calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit. Br J Haematol: 1995; 91 2 452 457
-
(1995)
Br J Haematol
, vol.91
, Issue.2
, pp. 452-457
-
-
Aslam, S.1
Poon, M.C.2
Yee, V.C.3
Bowen, D.J.4
Standen, G.R.5
-
83
-
-
33751376641
-
A novel genetic defect in a Chinese family with inherited coagulation factor XIII deficiency
-
Wu S. Y., Wang Z. Y., Dong N. Z., Zhang W., Bai X., Ruan C. G. [A novel genetic defect in a Chinese family with inherited coagulation factor XIII deficiency]. Zhonghua Xue Ye Xue Za Zhi: 2006; 27 3 145 149
-
(2006)
Zhonghua Xue Ye Xue Za Zhi
, vol.27
, Issue.3
, pp. 145-149
-
-
Wu, S.Y.1
Wang, Z.Y.2
Dong, N.Z.3
Zhang, W.4
Bai, X.5
Ruan, C.G.6
-
84
-
-
66949135748
-
The Arg703Trp missense mutation in F13A1 is a de novo event
-
Anwar R., Langlois S. The Arg703Trp missense mutation in F13A1 is a de novo event. Br J Haematol: 2009; 146 1 118 120
-
(2009)
Br J Haematol
, vol.146
, Issue.1
, pp. 118-120
-
-
Anwar, R.1
Langlois, S.2
-
85
-
-
0027333222
-
Factor XIII ABristol 1: Detection of a nonsense mutation (Arg171->stop codon) in factor XIII A subunit deficiency
-
Standen G. R., Bowen D. J. Factor XIII ABristol 1: detection of a nonsense mutation (Arg171->stop codon) in factor XIII A subunit deficiency. Br J Haematol: 1993; 85 4 769 772
-
(1993)
Br J Haematol
, vol.85
, Issue.4
, pp. 769-772
-
-
Standen, G.R.1
Bowen, D.J.2
-
86
-
-
77953070359
-
Identification of Arg77Cys and Arg174stop double heterozygous mutation in a Chinese family with inherited FXIII deficiency
-
Zheng W. D., Liu Y. H., He Q. Y., Chen Z. H., Fan X. B., Liu H. F. [Identification of Arg77Cys and Arg174stop double heterozygous mutation in a Chinese family with inherited FXIII deficiency]. Zhonghua Xue Ye Xue Za Zhi: 2009; 30 3 158 161
-
(2009)
Zhonghua Xue Ye Xue Za Zhi
, vol.30
, Issue.3
, pp. 158-161
-
-
Zheng, W.D.1
Liu, Y.H.2
He, Q.Y.3
Chen, Z.H.4
Fan, X.B.5
Liu, H.F.6
-
87
-
-
29144522948
-
Factor XIII deficiency: New nonsense and deletion mutations in the human factor XIIIA gene
-
Anwar R., Gallivan L., Richards M., Khair K., Wright M., Minford A. Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. Haematologica: 2005; 90 12 1718 1720
-
(2005)
Haematologica
, vol.90
, Issue.12
, pp. 1718-1720
-
-
Anwar, R.1
Gallivan, L.2
Richards, M.3
Khair, K.4
Wright, M.5
Minford, A.6
-
88
-
-
0029794496
-
New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII
-
Kangsadalampai S., Farges-Berth A., Caglayan S. H., Board P. G. New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII. Thromb Haemost: 1996; 76 2 139 142
-
(1996)
Thromb Haemost
, vol.76
, Issue.2
, pp. 139-142
-
-
Kangsadalampai, S.1
Farges-Berth, A.2
Caglayan, S.H.3
Board, P.G.4
-
89
-
-
0028820520
-
Molecular basis of inherited factor XIII deficiency: Identification of multiple mutations provides insights into protein function
-
Anwar R., Stewart A. D., Miloszewski K. J., Losowsky M. S., Markham A. F. Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. Br J Haematol: 1995; 91 3 728 735
-
(1995)
Br J Haematol
, vol.91
, Issue.3
, pp. 728-735
-
-
Anwar, R.1
Stewart, A.D.2
Miloszewski, K.J.3
Losowsky, M.S.4
Markham, A.F.5
-
90
-
-
0026660594
-
Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5′ end of exon III
-
Kamura T., Okamura T., Murakawa M., et al. Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5′ end of exon III. J Clin Invest: 1992; 90 2 315 319
-
(1992)
J Clin Invest
, vol.90
, Issue.2
, pp. 315-319
-
-
Kamura, T.1
Okamura, T.2
Murakawa, M.3
-
91
-
-
0029864477
-
Factor XIII(A) subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene
-
Aslam S., Bowen D. J., Mandalaki T., Gialeraki R., Standen G. R. Factor XIII(A) subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene. Am J Hematol: 1996; 53 2 77 80
-
(1996)
Am J Hematol
, vol.53
, Issue.2
, pp. 77-80
-
-
Aslam, S.1
Bowen, D.J.2
Mandalaki, T.3
Gialeraki, R.4
Standen, G.R.5
-
92
-
-
43349092502
-
Characterization of a large deletion that leads to congenital factor XIII deficiency
-
Otaki M., Inaba H., Shinozawa K., Fujita S., Amano K., Fukutake K. [Characterization of a large deletion that leads to congenital factor XIII deficiency]. Rinsho Byori: 2008; 56 3 187 194
-
(2008)
Rinsho Byori
, vol.56
, Issue.3
, pp. 187-194
-
-
Otaki, M.1
Inaba, H.2
Shinozawa, K.3
Fujita, S.4
Amano, K.5
Fukutake, K.6
-
93
-
-
33846940069
-
Molecular characterization of a novel mutation in the factor XIII A subunit gene associated with a severe defect and an adulthood diagnosis
-
Trigui N., Frère C., D'Ercole C., et al. Molecular characterization of a novel mutation in the factor XIII A subunit gene associated with a severe defect and an adulthood diagnosis. Haemophilia: 2007; 13 2 221 222
-
(2007)
Haemophilia
, vol.13
, Issue.2
, pp. 221-222
-
-
Trigui, N.1
Frère, C.2
D'Ercole, C.3
-
94
-
-
0032528345
-
A novel Asn344 deletion in the core domain of coagulation factor XIII A subunit: Its effects on protein structure and function
-
Kangsadalampai S., Chelvanayagam G., Baker R. T., et al. A novel Asn344 deletion in the core domain of coagulation factor XIII A subunit: its effects on protein structure and function. Blood: 1998; 92 2 481 487
-
(1998)
Blood
, vol.92
, Issue.2
, pp. 481-487
-
-
Kangsadalampai, S.1
Chelvanayagam, G.2
Baker, R.T.3
-
95
-
-
0031848336
-
A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene
-
Aslam S., Standen G. R., Bruce L. J., Gialeraki R., Mandalaki T. A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene. Blood Coagul Fibrinolysis: 1998; 9 5 441 443
-
(1998)
Blood Coagul Fibrinolysis
, vol.9
, Issue.5
, pp. 441-443
-
-
Aslam, S.1
Standen, G.R.2
Bruce, L.J.3
Gialeraki, R.4
Mandalaki, T.5
-
96
-
-
70449843392
-
Identification of a novel mutation of F (13) A gene in a pedigree with factor XIII deficiency
-
Jiao W. Y., Wu J. S., Ding Q. L., et al. [Identification of a novel mutation of F (13) A gene in a pedigree with factor XIII deficiency]. Zhonghua Xue Ye Xue Za Zhi: 2007; 28 9 598 601
-
(2007)
Zhonghua Xue Ye Xue Za Zhi
, vol.28
, Issue.9
, pp. 598-601
-
-
Jiao, W.Y.1
Wu, J.S.2
Ding, Q.L.3
-
97
-
-
0036068339
-
Mutations in coagulation factor XIII A gene in three Turkish patients: Two novel mutations and a known insertion
-
Birben E., Oner R., Oner C., Gümrük F., Altay C., Gürgey A. Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion. Br J Haematol: 2002; 118 1 278 281
-
(2002)
Br J Haematol
, vol.118
, Issue.1
, pp. 278-281
-
-
Birben, E.1
Oner, R.2
Oner, C.3
Gümrük, F.4
Altay, C.5
Gürgey, A.6
-
98
-
-
0031055171
-
Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: A splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA
-
Mikkola H., Muszbek L., Laiho E., et al. Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA. Blood: 1997; 89 4 1279 1287
-
(1997)
Blood
, vol.89
, Issue.4
, pp. 1279-1287
-
-
Mikkola, H.1
Muszbek, L.2
Laiho, E.3
-
99
-
-
0029048415
-
A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency
-
Vreken P., Niessen R. W., Peters M., Schaap M. C., Zuithoff-Rijntjes J. G., Sturk A. A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thromb Haemost: 1995; 74 2 584 589
-
(1995)
Thromb Haemost
, vol.74
, Issue.2
, pp. 584-589
-
-
Vreken, P.1
Niessen, R.W.2
Peters, M.3
Schaap, M.C.4
Zuithoff-Rijntjes, J.G.5
Sturk, A.6
-
100
-
-
77957014170
-
FXIII deficiency due to base exchange Thr 449 (ACT) -> Ile (ATT) in exon 11 of the factor 13A gene. A cause of bleeding
-
Maak B., Kochhan L., Heuchel P., Jenderny J. FXIII deficiency due to base exchange Thr 449 (ACT) -> Ile (ATT) in exon 11 of the factor 13A gene. A cause of bleeding? Hamostaseologie: 2010; 30 3 162 164
-
(2010)
Hamostaseologie
, vol.30
, Issue.3
, pp. 162-164
-
-
Maak, B.1
Kochhan, L.2
Heuchel, P.3
Jenderny, J.4
-
101
-
-
36849064208
-
Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation
-
Khalife H., Muwakkit S., Al-Moussawi H., et al. Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation. Pediatr Blood Cancer: 2008; 50 1 113 114
-
(2008)
Pediatr Blood Cancer
, vol.50
, Issue.1
, pp. 113-114
-
-
Khalife, H.1
Muwakkit, S.2
Al-Moussawi, H.3
-
102
-
-
70349823624
-
Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: Importance of prophylactic substitution
-
Morange P., Trigui N., Frère C., et al. Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: importance of prophylactic substitution. Blood Coagul Fibrinolysis: 2009; 20 7 605 606
-
(2009)
Blood Coagul Fibrinolysis
, vol.20
, Issue.7
, pp. 605-606
-
-
Morange, P.1
Trigui, N.2
Frère, C.3
-
103
-
-
84865257590
-
Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency
-
Souri M., Yee V. C., Fujii N., Ichinose A. Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency. Thromb Res: 2012; 130 3 506 510
-
(2012)
Thromb Res
, vol.130
, Issue.3
, pp. 506-510
-
-
Souri, M.1
Yee, V.C.2
Fujii, N.3
Ichinose, A.4
-
104
-
-
84355161759
-
Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency
-
Castaman G., Giacomelli S. H., Schroeder V., et al. Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency. Haemophilia: 2012; 18 1 e6 e8
-
(2012)
Haemophilia
, vol.18
, Issue.1
-
-
Castaman, G.1
Giacomelli, S.H.2
Schroeder, V.3
-
105
-
-
80052025085
-
Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: Five novel mutations detected
-
Shanbhag S., Shetty S., Ghosh K. Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: five novel mutations detected. Haemophilia: 2011; 17 5 e843 e845
-
(2011)
Haemophilia
, vol.17
, Issue.5
-
-
Shanbhag, S.1
Shetty, S.2
Ghosh, K.3
-
106
-
-
0001040957
-
Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor
-
Ichinose A., Davie E. W. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci U S A: 1988; 85 16 5829 5833
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, Issue.16
, pp. 5829-5833
-
-
Ichinose, A.1
Davie, E.W.2
|