Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3

Br J Haematol. 2013 Aug;162(3):415-8. doi: 10.1111/bjh.12371. Epub 2013 May 14.
No abstract available

Keywords: NK cells; T cells; UNC13D (Munc13-4); deep intronic mutation; familial haemophagocytic lymphohistiocytosis.

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Humans
  • Introns / genetics*
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Mutation, Missense
  • Pedigree

Substances

  • Membrane Proteins
  • UNC13D protein, human