Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA)

J Thromb Haemost. 2008 Apr;6(4):701-3. doi: 10.1111/j.1538-7836.2008.02905.x. Epub 2008 Jan 15.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Antithrombin III / genetics*
  • Antithrombin III Deficiency / diagnosis
  • Antithrombin III Deficiency / epidemiology
  • Antithrombin III Deficiency / genetics*
  • DNA Mutational Analysis / methods*
  • Exons / genetics
  • False Negative Reactions
  • Humans
  • Korea / epidemiology
  • Male
  • Mesenteric Veins
  • Middle Aged
  • Nucleic Acid Amplification Techniques / methods*
  • Pulmonary Embolism / etiology
  • Sensitivity and Specificity
  • Sequence Deletion*
  • Thrombophilia / complications
  • Thrombophilia / genetics
  • Venous Thrombosis / etiology

Substances

  • Antithrombin III