Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene

Haemophilia. 2014 Nov;20(6):e436-8. doi: 10.1111/hae.12549.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Asian People / genetics
  • China
  • DNA Mutational Analysis
  • Exons
  • Factor V Deficiency / diagnosis
  • Factor V Deficiency / genetics*
  • Hemophilia A / diagnosis
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Vesicular Transport Proteins / genetics*

Substances

  • MCFD2 protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Familial Multiple Coagulation Factor Deficiency I