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A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A

V Chan, TK Chan, TM Tong and D Todd

University Department of Medicine, Queen Mary Hospital, Hong Kong.

A new point mutation due to C----T transition at codon 189 (TCA) of the factor VIII:C gene was found in a Chinese patient with moderately severe hemophilia A. This mutation abolishes the EcoRI site (GAATTC) in exon 4 and can be directly detected by polyacrylamide gel electrophoresis of amplified genomic DNA.

Volume 74, Issue 8, pp. 2688-2691, 12/01/1989
Copyright © 1989 by The American Society of Hematology


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  Copyright © 1989 by American Society of Hematology         Online ISSN: 1528-0020