A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.
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.
Chan
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V
University Department of Medicine, Queen Mary Hospital, Hong Kong.
Chan
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TK
Tong
T M
TM
Todd
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D
D001483:Base Sequence; D015342:DNA Probes; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005784:Gene Amplification; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015183:Restriction Mapping
D015342:DNA Probes; D005169:Factor VIII