Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6

Thromb Haemost. 2018 May;118(5):939-941. doi: 10.1055/s-0038-1637721. Epub 2018 Mar 21.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Antithrombin III / genetics*
  • Antithrombin III / metabolism
  • Antithrombin III Deficiency / blood
  • Antithrombin III Deficiency / diagnosis*
  • Antithrombin III Deficiency / genetics
  • Blood Coagulation / genetics*
  • Exons*
  • Gene Duplication*
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction*
  • Predictive Value of Tests
  • Venous Thrombosis / blood
  • Venous Thrombosis / diagnosis*
  • Venous Thrombosis / genetics

Substances

  • SERPINC1 protein, human
  • Antithrombin III