Molecular etiology of factor VIII deficiency in hemophilia A.
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 identified to date and briefly discusses their functional significance.
Antonarakis
S E
SE
Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital, Switzerland.
Kazazian
H H
HH
Tuddenham
E G
EG
D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005260:Female; D015321:Gene Rearrangement; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018626:Retroelements; D017384:Sequence Deletion; D014960:X Chromosome / Q000648:ultrastructure
D018626:Retroelements; D005169:Factor VIII; D004247:DNA