Molecular etiology of factor VIII deficiency in hemophilia A | Zendy

Antonarakis Stylianos E. | Zendy; Kazazian Haig H. | Zendy; Tuddenham Edward G. D. | Zendy

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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.

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