Factor V C1149G and 5609-10INSCGTGGTT causing factor V deficiency: molecular characterization by in-vitro expression

Thromb Haemost. 2007 Sep;98(3):683-5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Animals
  • Blood Coagulation / genetics*
  • COS Cells
  • Chlorocebus aethiops
  • DNA Mutational Analysis
  • Exons
  • Factor V / chemistry
  • Factor V / genetics*
  • Factor V / metabolism
  • Factor V Deficiency / blood
  • Factor V Deficiency / genetics*
  • Female
  • Golgi Apparatus / metabolism
  • Humans
  • Lysosomes / metabolism
  • Middle Aged
  • Molecular Weight
  • Pedigree
  • Protein Conformation
  • Protein Sorting Signals / genetics
  • Protein Transport
  • Severity of Illness Index
  • Transfection

Substances

  • Protein Sorting Signals
  • Factor V