Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency

Blood Cells Mol Dis. 2010 Mar-Apr;44(2):120-3. doi: 10.1016/j.bcmd.2009.11.004. Epub 2009 Dec 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Blood Coagulation Disorders, Inherited / genetics*
  • Child, Preschool
  • Factor V / metabolism
  • Factor V Deficiency / genetics
  • Factor VIII / metabolism
  • Humans
  • Male
  • Molecular Dynamics Simulation
  • Mutation*
  • Nuclear Magnetic Resonance, Biomolecular
  • Protein Conformation
  • Vesicular Transport Proteins / chemistry*
  • Vesicular Transport Proteins / genetics*

Substances

  • MCFD2 protein, human
  • Vesicular Transport Proteins
  • Factor V
  • Factor VIII