Molecular genetics of coagulation factor VIII gene and hemophilia A.
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.
Antonarakis
S E
SE
Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland.
D000818:Animals; D007446:Chromosome Inversion; D004247:DNA / Q000235:genetics; D005091:Exons; D005169:Factor VIII / Q000235:genetics* / Q000378:metabolism; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D005169:Factor VIII; D004247:DNA