A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A |
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Authors: | Chan V; Chan TK; Tong TM; Todd D |
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Institution: | University Department of Medicine, Queen Mary Hospital, Hong Kong. |
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Abstract: | 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. |
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