Brief report: variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg-->Gln mutation in the gene for factor V

N Engl J Med. 1994 Dec 8;331(23):1559-62. doi: 10.1056/NEJM199412083312305.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Arginine / chemistry
  • Base Sequence
  • Child
  • Exons
  • Factor V / chemistry
  • Factor V / genetics*
  • Female
  • Glutamine / chemistry
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Protein C / metabolism*
  • Thrombosis / blood
  • Thrombosis / genetics*

Substances

  • Protein C
  • Glutamine
  • Factor V
  • Arginine