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...
Topics
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Chromosome Mapping
- DNA
- DNA Mutational Analysis
- Factor VIII
- Female
- Gene Rearrangement
- Hemophilia A
- Humans
- Male