-
1
-
-
0018890534
-
Human factor XIII: Fibrin-stabilizing factor
-
Spaet TH (ed): Philadelphia, PA, Grune & Stratton
-
Lorand L, Losowsky MS, Miloszewski KJM: Human factor XIII: Fibrin-stabilizing factor, in Spaet TH (ed): Progress in Hemostasis and Thrombosis, vol 5. Philadelphia, PA, Grune & Stratton, 1980, p 245
-
(1980)
Progress in Hemostasis and Thrombosis
, vol.5
, pp. 245
-
-
Lorand, L.1
Losowsky, M.S.2
Miloszewski, K.J.M.3
-
4
-
-
0000846375
-
Fibrin stabilization and factor XIII deficiency
-
Horwood E (ed): Chichester, UK, L. Francis
-
Miloszewski KJA, Losowsky MS: Fibrin stabilization and factor XIII deficiency, in Horwood E (ed): Fibrinogen, Fibrin Stabilization and Fibrinolysis. Chichester, UK, L. Francis, 1988, p 175
-
(1988)
Fibrinogen, Fibrin Stabilization and Fibrinolysis
, pp. 175
-
-
Miloszewski, K.J.A.1
Losowsky, M.S.2
-
5
-
-
0014506946
-
Factor XIII in human plasma and platelets
-
McDonagh J, McDonagh RP, Delage JM, Wagner RJ: Factor XIII in human plasma and platelets. J Clin Invest 48:940, 1969
-
(1969)
J Clin Invest
, vol.48
, pp. 940
-
-
McDonagh, J.1
McDonagh, R.P.2
Delage, J.M.3
Wagner, R.J.4
-
6
-
-
0021986751
-
Factor XIII of blood coagulation in human monocytes
-
Muszbek L, Adany R, Szegedi G, Polgar J, Kavai M: Factor XIII of blood coagulation in human monocytes. Thromb Res 37:401, 1985
-
(1985)
Thromb Res
, vol.37
, pp. 401
-
-
Muszbek, L.1
Adany, R.2
Szegedi, G.3
Polgar, J.4
Kavai, M.5
-
7
-
-
0022004141
-
Identification of intracellular factor XIII in human monocytes and macrophages
-
Henriksson P, Becker S, Lynch G, McDonagh J: Identification of intracellular factor XIII in human monocytes and macrophages. J Clin Invest 76:528, 1985
-
(1985)
J Clin Invest
, vol.76
, pp. 528
-
-
Henriksson, P.1
Becker, S.2
Lynch, G.3
McDonagh, J.4
-
8
-
-
0030055522
-
Three different cell types can synthesize FXIII subunit a in the human liver
-
Adany R, Antal R: Three different cell types can synthesize FXIII subunit A in the human liver. Thromb Haemost 76:74, 1996
-
(1996)
Thromb Haemost
, vol.76
, pp. 74
-
-
Adany, R.1
Antal, R.2
-
9
-
-
0028322985
-
Transglutaminases: Protein cross-linking enzymes in tissues and body fluids
-
Aeschlimann D, Paulsson M: Transglutaminases: Protein cross-linking enzymes in tissues and body fluids. Thromb Haemost 71:402, 1994
-
(1994)
Thromb Haemost
, vol.71
, pp. 402
-
-
Aeschlimann, D.1
Paulsson, M.2
-
10
-
-
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, Tsuda H, Teshima T, Shibya T, Harada M, Niho Y: Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. J Clin Invest 90:315, 1992
-
(1992)
J Clin Invest
, vol.90
, pp. 315
-
-
Kamura, T.1
Okamura, T.2
Murakawa, M.3
Tsuda, H.4
Teshima, T.5
Shibya, T.6
Harada, M.7
Niho, Y.8
-
11
-
-
0026700992
-
Identification of a point mutation in factor XIII A subunit deficiency
-
Board P, Coggan M, Miloszewski KJM: Identification of a point mutation in factor XIII A subunit deficiency. Blood 80:937, 1992
-
(1992)
Blood
, vol.80
, pp. 937
-
-
Board, P.1
Coggan, M.2
Miloszewski, K.J.M.3
-
12
-
-
0027333222
-
Bristol 1: Detection of a nonsense mutation (Arg171 → stop codon) in factor XIII deficiency
-
Bristol 1: Detection of a nonsense mutation (Arg171 → stop codon) in factor XIII deficiency. Br J Haematol 85:769, 1993
-
(1993)
Br J Haematol
, vol.85
, pp. 769
-
-
Standen, G.R.1
Bowen, D.J.2
-
13
-
-
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, Vahtera E, Hämäläinen E, Peltonen L, Palotie A: Deficiency in the A-subunit of coagulation factor XIII: Two novel point mutations demonstrate different effects on transcript levels. Blood 84:517, 1994
-
(1994)
Blood
, vol.84
, pp. 517
-
-
Mikkola, H.1
Syrjälä, M.2
Rasi, V.3
Vahtera, E.4
Hämäläinen, E.5
Peltonen, L.6
Palotie, A.7
-
14
-
-
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 RWLM, Peters M, Schaap MCL, Zuithoff-Rijntjes JGM, 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 74:584, 1995
-
(1995)
Thromb Haemost
, vol.74
, pp. 584
-
-
Vreken, P.1
Niessen, R.W.L.M.2
Peters, M.3
Schaap, M.C.L.4
Zuithoff-Rijntjes, J.G.M.5
Sturk, A.6
-
15
-
-
0028973614
-
A caigary : A candidate missense mutation (Leu667 → Pro) in the beta barrel 2 domain of the factor XIIIA subunit
-
A caigary : A candidate missense mutation (Leu667 → Pro) in the beta barrel 2 domain of the factor XIIIA subunit. Br J Haematol 91:452, 1995
-
(1995)
Br J Haematol
, vol.91
, pp. 452
-
-
Aslam, S.1
Poon, M.-C.2
Yee, V.C.3
Bowen, D.J.4
Standen, G.5
-
16
-
-
0028820520
-
Molecular basis of inherited factor XIII deficiency: Identification of multiple mutations provides insights into protein function
-
Anwar R, Stewart AD, Miloszewski KJA, Losowsky MS, Markham AF: Molecular basis of inherited factor XIII deficiency: Identification of multiple mutations provides insights into protein function. Br J Haematol 91:728, 1995
-
(1995)
Br J Haematol
, vol.91
, pp. 728
-
-
Anwar, R.1
Stewart, A.D.2
Miloszewski, K.J.A.3
Losowsky, M.S.4
Markham, A.F.5
-
17
-
-
13344261413
-
Four novel mutations in deficiency of coagulation factor XIII: Consequences to expression and structure of the A-subunit
-
Mikkola H, Yee VC, Syrjälä M, Seitz R, Egbring R, Ljung R, Petrini P, Ingerslev J, Teller D, Peltonen L, Palotie A: Four novel mutations in deficiency of coagulation factor XIII: Consequences to expression and structure of the A-subunit. Blood 87:141, 1996
-
(1996)
Blood
, vol.87
, pp. 141
-
-
Mikkola, H.1
Yee, V.C.2
Syrjälä, M.3
Seitz, R.4
Egbring, R.5
Ljung, R.6
Petrini, P.7
Ingerslev, J.8
Teller, D.9
Peltonen, L.10
Palotie, A.11
-
18
-
-
0029794496
-
New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII
-
Kangsadalampai S, Farges-Berth A, Caglayan SH, Board PG: New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII. Thromb Haemost 76:139, 1996
-
(1996)
Thromb Haemost
, vol.76
, pp. 139
-
-
Kangsadalampai, S.1
Farges-Berth, A.2
Caglayan, S.H.3
Board, P.G.4
-
19
-
-
0028226016
-
Three-dimensional structure of a transglutaminase: Human blood coagulation factor XIII
-
Yee VC, Pedersen LC, le Trong I, Bishop PD, Stenkamp R, Teller DC: Three-dimensional structure of a transglutaminase: Human blood coagulation factor XIII. Proc Natl Acad Sci USA 91:7296, 1994
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 7296
-
-
Yee, V.C.1
Pedersen, L.C.2
Le Trong, I.3
Bishop, P.D.4
Stenkamp, R.5
Teller, D.C.6
-
20
-
-
0023803842
-
Characterization of the gene for the a subunit of human coagulation factor XIII
-
Ichinose A, Davie EW: Characterization of the gene for the a subunit of human coagulation factor XIII. Proc Natl Acad Sci USA 231:15, 1988
-
(1988)
Proc Natl Acad Sci USA
, vol.231
, pp. 15
-
-
Ichinose, A.1
Davie, E.W.2
-
21
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766, 1989
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
22
-
-
0024437865
-
Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein e polymorphism
-
Syvänen AC, Aalto-Setälä K, Kontula K, Söderlund H: Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism. FEBS Lett 258:71, 1989
-
(1989)
FEBS Lett
, vol.258
, pp. 71
-
-
Syvänen, A.C.1
Aalto-Setälä, K.2
Kontula, K.3
Söderlund, H.4
-
23
-
-
0025650533
-
A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E
-
Syvänen AC, Aalto-Setälä K, Harju L, Kontula K, Söderlund H: A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 8:684, 1990
-
(1990)
Genomics
, vol.8
, pp. 684
-
-
Syvänen, A.C.1
Aalto-Setälä, K.2
Harju, L.3
Kontula, K.4
Söderlund, H.5
-
24
-
-
0015463837
-
A filter paper assay for transamidating enzymes using radioactive amine Substrates
-
Lorand L, Campbell-Wilkes LK, Cooperstein L: A filter paper assay for transamidating enzymes using radioactive amine Substrates. Anal Biochem 50:623, 1972
-
(1972)
Anal Biochem
, vol.50
, pp. 623
-
-
Lorand, L.1
Campbell-Wilkes, L.K.2
Cooperstein, L.3
-
25
-
-
0027512006
-
Platelet factor XIII becomes active without the release of activation peptide during platelet activation
-
Muszbek L, Polgar J, Boda Z: Platelet factor XIII becomes active without the release of activation peptide during platelet activation. Thromb Hemost 69:282, 1993
-
(1993)
Thromb Hemost
, vol.69
, pp. 282
-
-
Muszbek, L.1
Polgar, J.2
Boda, Z.3
-
26
-
-
0022811920
-
Type I and type II disease in congenital factor XIII deficiency
-
Girolami A, Cappellato MG, Lazzaro AR, Boscaro M: Type I and type II disease in congenital factor XIII deficiency. Blut 53:411, 1986
-
(1986)
Blut
, vol.53
, pp. 411
-
-
Girolami, A.1
Cappellato, M.G.2
Lazzaro, A.R.3
Boscaro, M.4
-
27
-
-
0025217734
-
A familial factor XIII subunit B deficiency
-
Saito M, Asakura H, Yoshida T, Ito K, Okafuji K, Yoshida T, Matsuda T: A familial factor XIII subunit B deficiency. Br J Hematol 74:290, 1990
-
(1990)
Br J Hematol
, vol.74
, pp. 290
-
-
Saito, M.1
Asakura, H.2
Yoshida, T.3
Ito, K.4
Okafuji, K.5
Yoshida, T.6
Matsuda, T.7
-
28
-
-
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 82:145, 1993
-
(1993)
Blood
, vol.82
, pp. 145
-
-
Hashiguchi, T.1
Saito, M.2
Morishita, E.3
Matsuda, T.4
Ichinose, A.5
-
29
-
-
0029947440
-
Type I factor XIII deficiency is caused by a genetic defect of its b subunit: Insertion of triplet exon III leads to a premature termination in the second sushi domain
-
Izumi T, Hashiguchi T, Castaman G, Tosetto A, Rodeghiero F, Girolami A, Ichinose A: Type I factor XIII deficiency is caused by a genetic defect of its b subunit: Insertion of triplet exon III leads to a premature termination in the second sushi domain. Blood 87:2769, 1996
-
(1996)
Blood
, vol.87
, pp. 2769
-
-
Izumi, T.1
Hashiguchi, T.2
Castaman, G.3
Tosetto, A.4
Rodeghiero, F.5
Girolami, A.6
Ichinose, A.7
-
30
-
-
0025607863
-
Cross-linked Aα-γ hybrids serve as unique markers for fibrinogen polymerized by tissue transglutaminase
-
Murthy SNP, Lorand L: Cross-linked Aα-γ hybrids serve as unique markers for fibrinogen polymerized by tissue transglutaminase. Proc Natl Acad Sci USA 87:9679, 1990
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 9679
-
-
Murthy, S.N.P.1
Lorand, L.2
-
31
-
-
0025840251
-
Intramolecular cross-linking of monomeric fibrinogen by tissue transglutaminase
-
Murthy SNP, Wilson J, Guy SL, Lorand L: Intramolecular cross-linking of monomeric fibrinogen by tissue transglutaminase. Proc Natl Acad Sci USA 88:10601, 1991
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10601
-
-
Murthy, S.N.P.1
Wilson, J.2
Guy, S.L.3
Lorand, L.4
-
32
-
-
0015092656
-
The effect of fibrin-stabilizing factor on the subunit structure of human fibrin
-
Schwanz ML, Pizzo SV, Hill RL: The effect of fibrin-stabilizing factor on the subunit structure of human fibrin. J Clin Invest 50:1506, 1971
-
(1971)
J Clin Invest
, vol.50
, pp. 1506
-
-
Schwanz, M.L.1
Pizzo, S.V.2
Hill, R.L.3
-
33
-
-
0029089179
-
Molecular genetics of coagulation factor VIII gene and hemophilia A
-
Antonarakis SE: Molecular genetics of coagulation factor VIII gene and hemophilia A. Thromb Hemost 74:322, 1995
-
(1995)
Thromb Hemost
, vol.74
, pp. 322
-
-
Antonarakis, S.E.1
-
34
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes
-
Krawczak M, Reiss J, Cooper D: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes. Hum Genet 90:41, 1992
-
(1992)
Hum Genet
, vol.90
, pp. 41
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.3
-
35
-
-
0020620321
-
Specific transcription and RNA splicing defects in five cloned β-thalassemia genes
-
Treisman R, Orkin SH, Maniatis T: Specific transcription and RNA splicing defects in five cloned β-thalassemia genes. Nature 302:591, 1983
-
(1983)
Nature
, vol.302
, pp. 591
-
-
Treisman, R.1
Orkin, S.H.2
Maniatis, T.3
-
36
-
-
0028017998
-
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
-
Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA: Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 8:195, 1994
-
(1994)
Nat Genet
, vol.8
, pp. 195
-
-
Kaler, S.G.1
Gallo, L.K.2
Proud, V.K.3
Percy, A.K.4
Mark, Y.5
Segal, N.A.6
Goldstein, D.S.7
Holmes, C.S.8
Gahl, W.A.9
-
37
-
-
0028205961
-
Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: A possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency
-
Arredondo-Vega FX, Santisteban I, Kelly S, Schlossman CM, Umetsu DT, Hershfield MS: Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: A possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. Am J Hum Genet 54:820, 1994
-
(1994)
Am J Hum Genet
, vol.54
, pp. 820
-
-
Arredondo-Vega, F.X.1
Santisteban, I.2
Kelly, S.3
Schlossman, C.M.4
Umetsu, D.T.5
Hershfield, M.S.6
-
38
-
-
0028973522
-
T → A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
-
Tee M, Lin D, Sugawara T, Holt JA, Guiguen Y, Buckinham B, Strauss JF, Miller WL: T → A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. Hum Mol Genet 4:2299, 1995
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2299
-
-
Tee, M.1
Lin, D.2
Sugawara, T.3
Holt, J.A.4
Guiguen, Y.5
Buckinham, B.6
Strauss, J.F.7
Miller, W.L.8
-
39
-
-
0023245404
-
Signals for the selection of a splice site pre-mRNA: Computer analysis of splice junctions sequences and like sequences
-
Ohshima Y, Gotoh Y: Signals for the selection of a splice site pre-mRNA: Computer analysis of splice junctions sequences and like sequences. J Mol Biol 195:247, 1987
-
(1987)
J Mol Biol
, vol.195
, pp. 247
-
-
Ohshima, Y.1
Gotoh, Y.2
|