Identification of a novel frameshift mutation causing a premature stop codon in a young Nigerian man with type I antithrombin deficiency

Thromb Res. 2013 May;131(5):463-5. doi: 10.1016/j.thromres.2013.01.032. Epub 2013 Feb 18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Antithrombin III Deficiency / genetics*
  • Codon, Nonsense*
  • Frameshift Mutation*
  • Humans
  • Male
  • Nigeria

Substances

  • Codon, Nonsense