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Article

The Missense Mutation Arg593 → Cys Is Related to Antibody Formation in a Patient With Mild Hemophilia A

15 Jun 1997

Abstract excerpt

The development of inhibitory antibodies to factor VIII in patients affected by a mild form of hemophilia A (factor VIII > 0.05 IU/mL) is considered a rare event. In this study, we evaluated the relationship between genotype and anti-factor VIII antibody formation in a patient with mild hemophilia A. Mutation analysis showed that a missense mutation in the factor VIII gene leading to replacement of Arg593 by Cys...

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Share to Blood Coagulation and Thrombosis Mechanisms
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Identifiers

PMID: 9192760
DOI: 10.1182/blood.v89.12.4371

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