title: Molecular genetics of coagulation factor VIII gene and hemophilia A.
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.
authors.affiliation: Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland.
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: 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
chemical_list: D005169:Factor VIII; D004247:DNA