Article
The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII.
Blood - 15 Jan 1998
Amano K, Sarkar R, Pemberton S, Kemball-Cook G, Kazazian H H, Kaufman R J
Abstract excerpt
Factor VIII (FVIII) is the protein defective in the bleeding disorder hemophilia A. Approximately 5% of hemophilia A patients have normal amounts of a dysfunctional FVIII protein and are termed cross-reacting material (CRM)-positive. The majority of genetic alterations that result in CRM-positive...
Topics
- Animals
- COS Cells
- Cross Reactions
- Factor IXa
- Factor VIII
- Hemophilia A
- Humans
- Mutation