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Molecular genetics of coagulation factor VIII gene and hemophilia A
1Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland.
Thrombosis and Haemostasis
|July 1, 1995
Abstract:
This review summarizes the structure of human coagulation factor VIII gene and its deduced protein sequence and the molecular etiology of hemophilia A in man. The gross DNA rearrangements including the common inversions of factor VIII (which account for about 45% of severe hemophilia A patients), and the point mutations are discussed. The functional consequences of certain missense mutations are illustrated.