Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain

被引：9
|
作者：
de Moerloose, P [1 ]
Germanos-Haddad, M
Boehlen, F
Neerman-Arbez, M
机构：
[1] Univ Hosp Geneva, Haemostasis Unit, CH-1211 Geneva 14, Switzerland
[2] Univ Hosp Geneva, Div Med Genet, CH-1211 Geneva 14, Switzerland
[3] Hop Hotel Dieu, Haematol Lab, Beirut, Lebanon
来源：
BLOOD COAGULATION & FIBRINOLYSIS | 2004年 / 15卷 / 03期
关键词：
factor XI; mutation; bleeding;
D O I：
10.1097/00001721-200404000-00013
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
In this study, a Lebanese woman with severe factor XI deficiency as well as several unaffected family members were analysed. The F1 1 gene was screened by polymerase chain reaction amplification of all 15 exons, including intron-exon junctions followed by single-strand conformational analysis. Variant single-strand conformational analysis profiles were obtained for exon 13; sequencing of these products allowed the identification of a novel missense mutation (Trp501Cys) situated in the catalytic domain, in homozygosity in the proband. (C) 2004 Lippincott Williams Wilkins.
引用
收藏
页码：269 / 272
页数：4
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