A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease

Thromb Res. 2023 Dec:232:104-107. doi: 10.1016/j.thromres.2023.11.002. Epub 2023 Nov 11.
No abstract available

Keywords: Hereditary antithrombin deficiency; Novel mutation; SERPINC1; Venous thromboembolism.

Publication types

  • Letter

MeSH terms

  • Antithrombin III / genetics
  • Antithrombin III Deficiency* / genetics
  • East Asian People
  • Humans
  • Mutation
  • Thrombosis* / genetics

Substances

  • Antithrombin III
  • SERPINC1 protein, human