Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency

Thromb Haemost. 2013 Mar;109(3):556-8. doi: 10.1160/TH12-09-0707. Epub 2013 Jan 17.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Anticoagulants / metabolism
  • Antithrombin III / genetics*
  • Antithrombin III Deficiency / genetics*
  • Female
  • HEK293 Cells
  • Heterozygote*
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Point Mutation
  • Risk Factors

Substances

  • Anticoagulants
  • SERPINC1 protein, human
  • antithrombin Cambridge II
  • Antithrombin III