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.


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


  • DNA Probes
  • Factor VIII