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Molecular etiology of factor VIII deficiency in hemophilia A
Author(s) -
Antonarakis Stylianos E.,
Kazazian Haig H.,
Tuddenham Edward G. D.
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380050102
Subject(s) - factor ix , biology , etiology , genetics , coagulation , coagulation disorder , factor xi , coagulopathy , mutation , gene , medicine
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 vvith severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance. © 1995 Wiley‐Liss, Inc.