A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient

Hum Mutat. 1994;3(2):156-8. doi: 10.1002/humu.1380030211.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Binding Sites
  • DNA Mutational Analysis
  • Factor IX / chemistry
  • Factor IX / genetics*
  • France
  • Genes*
  • Hemophilia B / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • Factor IX