Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods

Br J Haematol. 2019 Aug;186(4):e82-e86. doi: 10.1111/bjh.15913. Epub 2019 Apr 2.
No abstract available

Keywords: antithrombin deficiency; deletion; intron; long-range PCR.

Publication types

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

MeSH terms

  • Antithrombin III / genetics*
  • Antithrombin III Deficiency / diagnosis*
  • Antithrombin III Deficiency / etiology
  • Female
  • Humans
  • Male
  • Molecular Diagnostic Techniques*
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Sequence Deletion

Substances

  • SERPINC1 protein, human
  • Antithrombin III