MOLECULAR ETIOLOGY OF FACTOR-VIII DEFICIENCY IN HEMOPHILIA-A

被引：102

作者：

ANTONARAKIS, SE

KAZAZIAN, HH

TUDDENHAM, EGD

机构：

[1] HOP CANTONAL GENEVA, CH-1211 GENEVA 4, SWITZERLAND

[2] JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21205 USA

[3] UNIV PENN, SCH MED, DEPT GENET, PHILADELPHIA, PA 19104 USA

[4] MRC, CLIN RES CTR, HAEMOSTASIS RES GRP, HARROW, MIDDX, ENGLAND

来源：

HUMAN MUTATION | 1995年 / 5卷 / 01期

关键词：

HEMOPHILIA A; FACTOR VIII GENE; MUTATION;

D O I：

10.1002/humu.1380050102

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hemophilia is a common X-linked coagulation disorder due to deficiency of factor VIII. The factor VIII gene has been cloned in 1984 and a large number of mutations that cause hemophilia A have been identified in the last decade. The most common of the mutations is an inversion of factor VIII that accounts for nearly 45% of patients with severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance. (C) 1995 Wiley Liss, Inc.

引用

页码：1 / 22

页数：22

共 121 条

[1]

ACQUILA M, 1993, THROMB HAEMOSTASIS, V69, P392

[2] A NEW HIND-III RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM IN THE HEMOPHILIA-A LOCUS [J].