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Blood. 1989 Dec;74(8):2688-91.

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

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1
University Department of Medicine, Queen Mary Hospital, Hong Kong.

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.

PMID:
2510835
[Indexed for MEDLINE]
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