Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk

Thromb Haemost. 2007 Sep;98(3):695-7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Antithrombin III / chemistry
  • Antithrombin III / genetics*
  • Antithrombin III / metabolism
  • Antithrombin III Deficiency / blood
  • Antithrombin III Deficiency / complications
  • Antithrombin III Deficiency / diagnosis
  • Antithrombin III Deficiency / genetics*
  • Automation
  • Binding Sites / genetics
  • Blood Coagulation Tests*
  • Female
  • Genetic Predisposition to Disease
  • Heparin / metabolism*
  • Heterozygote
  • Homozygote
  • Humans
  • Molecular Weight
  • Mutation, Missense*
  • Pedigree
  • Risk Assessment
  • Risk Factors
  • Thrombosis / genetics*

Substances

  • Antithrombin III
  • Heparin