-
1
-
-
0025874052
-
Factor XI activation in a revised model of blood coagulation
-
Gailani D, Broze GJ Jr. Factor XI activation in a revised model of blood coagulation. Science 1991; 253:909-912.
-
(1991)
Science
, vol.253
, pp. 909-912
-
-
Gailani, D.1
Broze Jr., G.J.2
-
2
-
-
0028843737
-
Feedback activation of factor XI by thrombin in plasma results in additional formation of thrombin that protects fibrin clots against fibrinolysis
-
von dem Borne PAK, Meijers JCM, Bouma BN. Feedback activation of factor XI by thrombin in plasma results in additional formation of thrombin that protects fibrin clots against fibrinolysis. Blood 1995; 86:3035-3042.
-
(1995)
Blood
, vol.86
, pp. 3035-3042
-
-
Von Dem Borne, P.A.K.1
Meijers, J.C.M.2
Bouma, B.N.3
-
3
-
-
0025975587
-
Location of the disulfide bonds in human coagulation factor XI: The presence of tandem apple domains
-
McMullen BA, Fujikawa K, Davie EW. Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains. Biochemistry 1991; 30:2056-2060.
-
(1991)
Biochemistry
, vol.30
, pp. 2056-2060
-
-
McMullen, B.A.1
Fujikawa, K.2
Davie, E.W.3
-
4
-
-
0032709947
-
The role of factor XI in coagulation: A matter of revision
-
Minnema MC, Ten Cate H, Hack CE. The role of factor XI in coagulation: a matter of revision. Semin Thromb Hemost 1999; 25:419-428.
-
(1999)
Semin Thromb Hemost
, vol.25
, pp. 419-428
-
-
Minnema, M.C.1
Ten Cate, H.2
Hack, C.E.3
-
5
-
-
0025219645
-
Localization of the high molecular weight kininogen binding site in the heavy chain of human factor XI to amino acids phenylalanine 56 through serine 86
-
Baglia FA, Jameson BA, Walsh PN. Localization of the high molecular weight kininogen binding site in the heavy chain of human factor XI to amino acids phenylalanine 56 through serine 86. J Biol Chem 1990; 265:4149-4154.
-
(1990)
J Biol Chem
, vol.265
, pp. 4149-4154
-
-
Baglia, F.A.1
Jameson, B.A.2
Walsh, P.N.3
-
6
-
-
0030067448
-
A binding site for thrombin in the apple 1 domain of factor XI
-
Baglia FA, Walsh PN. A binding site for thrombin in the apple 1 domain of factor XI. J Biol Chem 1996; 271:3652-3658.
-
(1996)
J Biol Chem
, vol.271
, pp. 3652-3658
-
-
Baglia, F.A.1
Walsh, P.N.2
-
7
-
-
0034644770
-
A binding site for the kringle II domain of prothrombin in the apple 1 domain of factor XI
-
Baglia FA, Badellino KO, Ho DH, Dasari VR, Walsh PN. A binding site for the kringle II domain of prothrombin in the apple 1 domain of factor XI. J Biol Chem 2000; 275:31954-31962.
-
(2000)
J Biol Chem
, vol.275
, pp. 31954-31962
-
-
Baglia, F.A.1
Badellino, K.O.2
Ho, D.H.3
Dasari, V.R.4
Walsh, P.N.5
-
8
-
-
0026354477
-
Identification and chemical synthesis of a substrate-binding site for factor IX on coagulation factor XIa
-
Baglia FA, Jameson BA, Walsh PN. Identification and chemical synthesis of a substrate-binding site for factor IX on coagulation factor XIa. J Biol Chem 1991; 266:24190-24197.
-
(1991)
J Biol Chem
, vol.266
, pp. 24190-24197
-
-
Baglia, F.A.1
Jameson, B.A.2
Walsh, P.N.3
-
9
-
-
0028948754
-
Identification and characterization of a binding site for platelets in the Apple 3 domain of coagulation factor XI
-
Baglia FA, Jameson BA, Walsh PN. Identification and characterization of a binding site for platelets in the Apple 3 domain of coagulation factor XI. J Biol Chem 1995; 270:6734-6740.
-
(1995)
J Biol Chem
, vol.270
, pp. 6734-6740
-
-
Baglia, F.A.1
Jameson, B.A.2
Walsh, P.N.3
-
10
-
-
0026692143
-
Apple four in human blood coagulation factor XI mediates dimer formation
-
Meijers JC, Mulvihill ER, Davie EW, Chung DW. Apple four in human blood coagulation factor XI mediates dimer formation. Biochemistry 1992; 31:4680-4684.
-
(1992)
Biochemistry
, vol.31
, pp. 4680-4684
-
-
Meijers, J.C.1
Mulvihill, E.R.2
Davie, E.W.3
Chung, D.W.4
-
12
-
-
0036530032
-
Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene
-
Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, Seligsohn U. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 2002; 99:2448-2454.
-
(2002)
Blood
, vol.99
, pp. 2448-2454
-
-
Zivelin, A.1
Bauduer, F.2
Ducout, L.3
Peretz, H.4
Rosenberg, N.5
Yatuv, R.6
Seligsohn, U.7
-
13
-
-
0032211183
-
Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting
-
Martincic D, Zimmermann SA, Ware RE, Sun M-F, Whitlock JA, Gailani D. Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting. Blood 1998; 92:3309-3317.
-
(1998)
Blood
, vol.92
, pp. 3309-3317
-
-
Martincic, D.1
Zimmermann, S.A.2
Ware, R.E.3
Sun, M.-F.4
Whitlock, J.A.5
Gailani, D.6
-
14
-
-
0023515093
-
Organization of the gene for human factor XI
-
Asakai R, Davie EW, Chung DW. Organization of the gene for human factor XI. Biochemistry 1987; 26:7221-7228.
-
(1987)
Biochemistry
, vol.26
, pp. 7221-7228
-
-
Asakai, R.1
Davie, E.W.2
Chung, D.W.3
-
15
-
-
0038015838
-
Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography
-
Mitchell M, Harrington P, Cutler J, Rangarajan S, Savidge G, Alhaq A. Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. Br J Haematol 2003; 121:500-502.
-
(2003)
Br J Haematol
, vol.121
, pp. 500-502
-
-
Mitchell, M.1
Harrington, P.2
Cutler, J.3
Rangarajan, S.4
Savidge, G.5
Alhaq, A.6
-
16
-
-
0031092272
-
The human gene mutation database
-
Krawczak M, Cooper DN. The human gene mutation database. Trends Genet 1997; 13:121-122.
-
(1997)
Trends Genet
, vol.13
, pp. 121-122
-
-
Krawczak, M.1
Cooper, D.N.2
-
17
-
-
13244249216
-
Eight novel mutations in factor XI deficient kindreds in northern Europe
-
Bolton-Maggs PHB, Butler R, Mountford R. Eight novel mutations in factor XI deficient kindreds in northern Europe [Abstract]. Thromb Haemost (suppl):1999;P2542.
-
(1999)
Thromb Haemost
, Issue.SUPPL.
-
-
Bolton-Maggs, P.H.B.1
Butler, R.2
Mountford, R.3
-
18
-
-
4444331157
-
Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation
-
Quelin F, Trossaert M, Sigaud M, Mazancourt PD, Fressinaud E. Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. J Thromb Haemost 2004; 2:71-76.
-
(2004)
J Thromb Haemost
, vol.2
, pp. 71-76
-
-
Quelin, F.1
Trossaert, M.2
Sigaud, M.3
Mazancourt, P.D.4
Fressinaud, E.5
-
20
-
-
4944240512
-
Eleven novel mutations in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing
-
Bolton-Maggs P, Butler R, Mountford R, Gailani D. Eleven novel mutations in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing [Abstract]. J Thromb Haemost (Suppl 1):2003;P1687.
-
(2003)
J Thromb Haemost
, Issue.SUPPL. 1
-
-
Bolton-Maggs, P.1
Butler, R.2
Mountford, R.3
Gailani, D.4
-
21
-
-
0037487607
-
Identification of 3 novel mutations in the factor XI gene in Jewish patients
-
Zivelin A, Peretz H, Kornbrot N, Livnat T, Bulvik S, Kenet G, Seligsohn U. Identification of 3 novel mutations in the factor XI gene in Jewish patients [Abstract]. Thromb Haemost (suppl):1999;P893.
-
(1999)
Thromb Haemost
, Issue.SUPPL.
-
-
Zivelin, A.1
Peretz, H.2
Kornbrot, N.3
Livnat, T.4
Bulvik, S.5
Kenet, G.6
Seligsohn, U.7
-
22
-
-
0033708931
-
Molecular genetic analysis of factor XI deficiency: Identification of five novel gene alterations and the origin of type II mutation in Portuguese families
-
Ventura C, Santos AI, Tavares A Gago T, Lavinha J, McVey JH, David D. Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. Thromb Haemost 2000; 84:833-840.
-
(2000)
Thromb Haemost
, vol.84
, pp. 833-840
-
-
Ventura, C.1
Santos, A.I.2
Tavares, A.3
Gago, T.4
Lavinha, J.5
McVey, J.H.6
David, D.7
-
23
-
-
18944378230
-
Hereditary factor XI deficiency: Novel and rare mutations and poymorphisms in Austrian patients
-
Dossenbach-Glaninger A, Krugluger W, Hopmeier P. Hereditary factor XI deficiency: Novel and rare mutations and poymorphisms in Austrian patients [Abstract]. J Lab Med 2002; 26:219.
-
(2002)
J Lab Med
, vol.26
, pp. 219
-
-
Dossenbach-Glaninger, A.1
Krugluger, W.2
Hopmeier, P.3
-
24
-
-
0012992989
-
Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations
-
Asakai R, Chung DW, Ratnoff OD, Davie EW. Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci USA 1989; 86:7667-7671.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 7667-7671
-
-
Asakai, R.1
Chung, D.W.2
Ratnoff, O.D.3
Davie, E.W.4
-
25
-
-
0029083217
-
Identification of two novel mutations in non-Jewish factor XI deficiency
-
Imanaka Y, Lal K, Nishimura T, Bolton-Maggs PH, Tuddenham EG, McVey JH. Identification of two novel mutations in non-Jewish factor XI deficiency. Br J Haematol 1995; 90:916-920.
-
(1995)
Br J Haematol
, vol.90
, pp. 916-920
-
-
Imanaka, Y.1
Lal, K.2
Nishimura, T.3
Bolton-Maggs, P.H.4
Tuddenham, E.G.5
McVey, J.H.6
-
26
-
-
3042592383
-
Severe factor XI deficiency caused by compound heterozygosity
-
Dai L, Mitchell M, Carson P, Creagh D, Cutler J, Savidge G, Alhaq A. Severe factor XI deficiency caused by compound heterozygosity. Br J Haematol 2004; 125:817-818.
-
(2004)
Br J Haematol
, vol.125
, pp. 817-818
-
-
Dai, L.1
Mitchell, M.2
Carson, P.3
Creagh, D.4
Cutler, J.5
Savidge, G.6
Alhaq, A.7
-
27
-
-
18944385577
-
Hereditary factor XI deficiency: Novel and rare mutations in Austrian patients
-
Dossenbach-Glaninger A, Hopmeier P. Hereditary factor XI deficiency: novel and rare mutations in Austrian patients [Abstract]. Ann Hematol 2003; 82(suppl 1):S2.
-
(2003)
Ann Hematol
, vol.82
, Issue.SUPPL. 1
-
-
Dossenbach-Glaninger, A.1
Hopmeier, P.2
-
28
-
-
9144227709
-
FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency
-
Wu WM, Ding QL, Wang XF, Fu QH, Wang WB, Dai J, et al. FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency. Zhonghua Xue Ye Xue Za Zhi 2004; 25:132-135.
-
(2004)
Zhonghua Xue Ye Xue Za Zhi
, vol.25
, pp. 132-135
-
-
Wu, W.M.1
Ding, Q.L.2
Wang, X.F.3
Fu, Q.H.4
Wang, W.B.5
Dai, J.6
-
29
-
-
18944364640
-
Three novel point mutations that cause severe factor XI deficiency in two unrelated Japanese families
-
Morishita E, Kuroda K, Ohtake S, Ontachi Y, Mizutani T, Yamazaki M, et al. Three novel point mutations that cause severe factor XI deficiency in two unrelated Japanese families [Abstract]. J Thromb Haemost (suppl 1): 2003;P1211d.
-
(2003)
J Thromb Haemost
, Issue.SUPPL. 1
-
-
Morishita, E.1
Kuroda, K.2
Ohtake, S.3
Ontachi, Y.4
Mizutani, T.5
Yamazaki, M.6
-
30
-
-
0032958492
-
Identification of a novel mutation in a non-Jewish factor XI deficient kindred
-
Alhaq A, Mitchell M, Sethi M, Rahman S, Flynn G, Boulton P, et al. Identification of a novel mutation in a non-Jewish factor XI deficient kindred. Br J Haematol 1999; 104:44-49.
-
(1999)
Br J Haematol
, vol.104
, pp. 44-49
-
-
Alhaq, A.1
Mitchell, M.2
Sethi, M.3
Rahman, S.4
Flynn, G.5
Boulton, P.6
-
31
-
-
34447643722
-
Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency
-
Wu WM, Wang HL, Wang XF, Chu HY, Fu QH, Ding QL, et al. Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency. Zhonghua Xue Ye Xue Za Zhi 2003; 24:126-128.
-
(2003)
Zhonghua Xue Ye Xue Za Zhi
, vol.24
, pp. 126-128
-
-
Wu, W.M.1
Wang, H.L.2
Wang, X.F.3
Chu, H.Y.4
Fu, Q.H.5
Ding, Q.L.6
-
32
-
-
0034020027
-
A novel mutation that leads to a congenital factor XI deficiency in a Japanese family
-
Sato E, Kawamata N, Kato A, Oshimi K. A novel mutation that leads to a congenital factor XI deficiency in a Japanese family. Am J Hematol 2000; 63:165-169.
-
(2000)
Am J Hematol
, vol.63
, pp. 165-169
-
-
Sato, E.1
Kawamata, N.2
Kato, A.3
Oshimi, K.4
-
33
-
-
17144456879
-
A novel type of factor XI deficiency showing compound genetic abnormalities: A nonsense mutation and an impaired transcription
-
Kawaguchi T, Koga S, Hongo H, Komiyama Y, Li K, Ishihara S, et al. A novel type of factor XI deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription. Int J Hematol 2000; 71:84-89.
-
(2000)
Int J Hematol
, vol.71
, pp. 84-89
-
-
Kawaguchi, T.1
Koga, S.2
Hongo, H.3
Komiyama, Y.4
Li, K.5
Ishihara, S.6
-
34
-
-
0141730297
-
Two factor XI mutations in a Chinese family with factor XI deficiency
-
Au WY, Cheung JW, Lam CC, Kwong YL. Two factor XI mutations in a Chinese family with factor XI deficiency. Am J Hematol 2003; 74:136-138.
-
(2003)
Am J Hematol
, vol.74
, pp. 136-138
-
-
Au, W.Y.1
Cheung, J.W.2
Lam, C.C.3
Kwong, Y.L.4
-
35
-
-
18944387917
-
Heterozygous E296K substitution in factor XI deficiency
-
Mathonnet F, Miri N, Maouel S, Boucly C, Mathieu B, Van Amerongen G, de Mazancourt P. Heterozygous E296K substitution in factor XI deficiency [Abstract]. Thromb Haemost (suppl):1999;P1078.
-
(1999)
Thromb Haemost
, Issue.SUPPL.
-
-
Mathonnet, F.1
Miri, N.2
Maouel, S.3
Boucly, C.4
Mathieu, B.5
Van Amerongen, G.6
De Mazancourt, P.7
-
36
-
-
0033402896
-
Heterozygous factor XI deficiency associated with three novel mutations
-
Mitchell M, Cutler J, Thompson S, Moore G, Jenkins AP, Rees E, et al. Heterozygous factor XI deficiency associated with three novel mutations. Br J Haematol 1999; 107:763-765.
-
(1999)
Br J Haematol
, vol.107
, pp. 763-765
-
-
Mitchell, M.1
Cutler, J.2
Thompson, S.3
Moore, G.4
Jenkins, A.P.5
Rees, E.6
-
37
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999; 22:231-238.
-
(1999)
Nat Genet
, vol.22
, pp. 231-238
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
Sklar, P.4
Ardlie, K.5
Patil, N.6
-
38
-
-
0034786374
-
Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 + G)
-
Dossenbach-Glaninger A, Krugluger W, Schrattbauer K, Eder S, Hopmeier P. Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 + G). Br J Haemat 2001; 114:875-877.
-
(2001)
Br J Haemat
, vol.114
, pp. 875-877
-
-
Dossenbach-Glaninger, A.1
Krugluger, W.2
Schrattbauer, K.3
Eder, S.4
Hopmeier, P.5
-
39
-
-
3643083098
-
Cross-reacting material positive (CRM+) factor XI deficiency, 'Factor XI Yamagata', with a GT>AT transition at donor splicing site of an intron J of the factor XI gene
-
Hayashi T, Satoh S, Suzuki K, Yahagi M, Yoshino M, Sasaki H. Cross-reacting material positive (CRM+) factor XI deficiency, 'Factor XI Yamagata', with a GT>AT transition at donor splicing site of an intron J of the factor XI gene [Abstract]. Thromb Haemost (suppl):1997; P1883.
-
(1997)
Thromb Haemost
, Issue.SUPPL.
-
-
Hayashi, T.1
Satoh, S.2
Suzuki, K.3
Yahagi, M.4
Yoshino, M.5
Sasaki, H.6
-
40
-
-
34250666924
-
Molecular analysis of factor XI deficiency in 8 Lebanese families: Identification of two novel mutations
-
Germanos-Haddad M, De Moerloose P, Neerman-Arbez M. Molecular analysis of factor XI deficiency in 8 Lebanese families: identification of two novel mutations [Abstract]. J Thromb Haemost (suppl 1):2003; P1207.
-
(2003)
J Thromb Haemost
, Issue.SUPPL. 1
-
-
Germanos-Haddad, M.1
De Moerloose, P.2
Neerman-Arbez, M.3
-
41
-
-
0030703535
-
Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11
-
Wistinghausen B, Reischer A, Oddoux C, Ostrer H, Nardi M, Karpatkin M. Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. Br J Haematol 1997; 99:575-577.
-
(1997)
Br J Haematol
, vol.99
, pp. 575-577
-
-
Wistinghausen, B.1
Reischer, A.2
Oddoux, C.3
Ostrer, H.4
Nardi, M.5
Karpatkin, M.6
-
42
-
-
3042844712
-
Amino acid substitution in the factor XI catalytic domain associated with factor XI deficiency
-
Gailani D, Bolton-Maggs PHB, Blinder M, Butler R, Mountford R, Heiny M, Dang T. Amino acid substitution in the factor XI catalytic domain associated with factor XI deficiency [Abstract]. Thromb Haemost (suppl 1):2001;P1112.
-
(2001)
Thromb Haemost
, Issue.SUPPL. 1
-
-
Gailani, D.1
Bolton-Maggs, P.H.B.2
Blinder, M.3
Butler, R.4
Mountford, R.5
Heiny, M.6
Dang, T.7
-
43
-
-
3042715266
-
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain
-
Kravtsov DV, Wu W, Meijers JC, Sun MF, Blinder MA, Dang TP, et al. Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Blood 2004; 104:128-134.
-
(2004)
Blood
, vol.104
, pp. 128-134
-
-
Kravtsov, D.V.1
Wu, W.2
Meijers, J.C.3
Sun, M.F.4
Blinder, M.A.5
Dang, T.P.6
-
44
-
-
0042810684
-
Compound heterozygosity for two novel mutations in a severe factor XI deficiency
-
Tsukahara A, Yamada T, Takagi A, Murate T, Matsushita T, Saito H, Kojima T. Compound heterozygosity for two novel mutations in a severe factor XI deficiency. Am J Hematol 2003; 73:279-284.
-
(2003)
Am J Hematol
, vol.73
, pp. 279-284
-
-
Tsukahara, A.1
Yamada, T.2
Takagi, A.3
Murate, T.4
Matsushita, T.5
Saito, H.6
Kojima, T.7
-
45
-
-
0000282363
-
Identification and characterization of mutations in the factor XI gene of non-Jewish FXI deficient patients
-
Imanaka Y, McVey JH, Nishimura T, Bolton-Maggs P, Lloyd J, Tuddenham EGD. Identification and characterization of mutations in the factor XI gene of non-Jewish FXI deficient patients [Abstract 763a]. Thromb Haemost 1993; 89:752.
-
(1993)
Thromb Haemost
, vol.89
, pp. 752
-
-
Imanaka, Y.1
McVey, J.H.2
Nishimura, T.3
Bolton-Maggs, P.4
Lloyd, J.5
Tuddenham, E.G.D.6
-
46
-
-
0034533380
-
A factor XI deficiency associated with a nonsense mutation (Trp501 stop) in the catalytic domain
-
Iijima K, Udagawa A, Kawasaki H, Murakami F, Shimomura T, Ikawa S. A factor XI deficiency associated with a nonsense mutation (Trp501 stop) in the catalytic domain. Br J Haematol 2000; 111:556-558.
-
(2000)
Br J Haematol
, vol.111
, pp. 556-558
-
-
Iijima, K.1
Udagawa, A.2
Kawasaki, H.3
Murakami, F.4
Shimomura, T.5
Ikawa, S.6
-
47
-
-
18944375037
-
Identification of a novel mutation causing factor XI deficiency in an Turkish family
-
Lex C, Kochhan L, Irsfeld H, Göbel U. Identification of a novel mutation causing factor XI deficiency in an Turkish family [Abstract]. Thromb Haemost (suppl 1):2001;P1144.
-
(2001)
Thromb Haemost
, Issue.SUPPL. 1
-
-
Lex, C.1
Kochhan, L.2
Irsfeld, H.3
Göbel, U.4
-
48
-
-
2342431695
-
Severe factor XI deficiency in a Lebanese family: Identification of a novel missense mutation (Trp501Cys) in the catalytic domain
-
De Moerloose P, Germanos-Haddad M, Boehlen F, Neerman-Arbez M. Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain. Blood Coagul Fibrinolysis 2004; 15:269-272.
-
(2004)
Blood Coagul Fibrinolysis
, vol.15
, pp. 269-272
-
-
De Moerloose, P.1
Germanos-Haddad, M.2
Boehlen, F.3
Neerman-Arbez, M.4
-
49
-
-
0030006913
-
A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency
-
Peretz H, Zivelin A, Usher S, Seligsohn U. A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency. Hum Mutat 1996; 8:77-78.
-
(1996)
Hum Mutat
, vol.8
, pp. 77-78
-
-
Peretz, H.1
Zivelin, A.2
Usher, S.3
Seligsohn, U.4
-
50
-
-
18944394249
-
Characterization of the human factor XI gene promoter
-
Tarumi T, Williams SM, Zhao M, Martincic D, Gailani D. Characterization of the human factor XI gene promoter [Abstract]. Thromb Haemost (suppl 1):2001;OC2397.
-
(2001)
Thromb Haemost
, Issue.SUPPL. 1
-
-
Tarumi, T.1
Williams, S.M.2
Zhao, M.3
Martincic, D.4
Gailani, D.5
-
51
-
-
0030755267
-
The two common mutations causing factor XI deficiency in Jews stem from distinct founders: One of ancient Middle Eastern origin and another of more recent European origin
-
Peretz H, Mulai A, Usher S, Zivelin A, Segal A, Weisman Z, et al. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. Blood 1997; 90:2654-2659.
-
(1997)
Blood
, vol.90
, pp. 2654-2659
-
-
Peretz, H.1
Mulai, A.2
Usher, S.3
Zivelin, A.4
Segal, A.5
Weisman, Z.6
-
52
-
-
18944398278
-
The rare factor XI type I mutation like the predominant type II and III mutations originated in a common founder
-
Peretz H, Zivelin A, Usher S, Brenner B, Seligsohn S. The rare factor XI type I mutation like the predominant type II and III mutations originated in a common founder [Abstract]. Thromb Haemost (suppl):1999;OC51.
-
(1999)
Thromb Haemost
, Issue.SUPPL.
-
-
Peretz, H.1
Zivelin, A.2
Usher, S.3
Brenner, B.4
Seligsohn, S.5
-
53
-
-
0026322941
-
Dinucleotide repeat polymorphism in the human coagulation factor XI gene, intron B (F11), detected using the polymerase chain reaction [Mutation report]
-
Bodfish P, Warne D, Watkins C, Nyberg K, Spurr NK. Dinucleotide repeat polymorphism in the human coagulation factor XI gene, intron B (F11), detected using the polymerase chain reaction [Mutation report]. Nucleic Acids Res 1991; 19:6979.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 6979
-
-
Bodfish, P.1
Warne, D.2
Watkins, C.3
Nyberg, K.4
Spurr, N.K.5
-
54
-
-
0025062940
-
RFLP for intron E of factor XI gene [Mutation report]
-
Butter MG, Parsons AD. RFLP for intron E of factor XI gene [Mutation report]. Nucl Acids Res 1990; 18:5327.
-
(1990)
Nucl Acids Res
, vol.18
, pp. 5327
-
-
Butter, M.G.1
Parsons, A.D.2
-
56
-
-
0035822038
-
The hemophilias-from royal genes to gene therapy
-
Mannucci PM, Tuddenham EG. The hemophilias-from royal genes to gene therapy. N Engl J Med 2001; 344:1773-1779.
-
(2001)
N Engl J Med
, vol.344
, pp. 1773-1779
-
-
Mannucci, P.M.1
Tuddenham, E.G.2
-
57
-
-
0019404547
-
Definition of the population at risk of bleeding due to factor XI deficiency in Ashkenazi Jews and the value of the activated partial thromboplastin time in its detection
-
Seligsohn U, Modan M. Definition of the population at risk of bleeding due to factor XI deficiency in Ashkenazi Jews and the value of the activated partial thromboplastin time in its detection. Israel J Med Sci 1981; 17:413-415.
-
(1981)
Israel J Med Sci
, vol.17
, pp. 413-415
-
-
Seligsohn, U.1
Modan, M.2
-
58
-
-
0027216858
-
Factor XI deficiency
-
Seligsohn U. Factor XI deficiency. Thromb Haemost 1993; 70:68-71.
-
(1993)
Thromb Haemost
, vol.70
, pp. 68-71
-
-
Seligsohn, U.1
|