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

V Chan; T K Chan; T M Tong; D Todd

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

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

Authors

V Chan¹, T K Chan, T M Tong, D Todd

Affiliation

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

PMID: 2510835

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
DNA Probes
Exons
Factor VIII / genetics*
Gene Amplification
Hemophilia A / genetics*
Humans
Molecular Sequence Data
Mutation
Restriction Mapping

Substances

DNA Probes
Factor VIII