Article
Molecular etiology of factor VIII deficiency in hemophilia A.
Human mutation - 1 Jan 1995
Antonarakis S E, Kazazian H H, Tuddenham E G
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.