Molecular etiology of factor VIII deficiency in hemophilia A
- 1 January 1995
- journal article
- review article
- Published by Hindawi Limited in Human Mutation
- Vol. 5 (1), 1-22
- https://doi.org/10.1002/humu.1380050102
Abstract
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.Keywords
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