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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 hemophilia A are missense mutations within the A2-domain. To determine the mechanistic basis of the genetic defects...

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PMID: 9427707

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The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII.PMID 9427707Read ↗

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