Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

J Med Genet. 2004 Feb;41(2):137-44. doi: 10.1136/jmg.2003.011528.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence / genetics
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Histiocytosis, Non-Langerhans-Cell / genetics*
  • Histiocytosis, Non-Langerhans-Cell / pathology*
  • Humans
  • Infant
  • Infant, Newborn
  • Killer Cells, Natural / physiology*
  • Male
  • Membrane Glycoproteins / chemistry
  • Membrane Glycoproteins / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • North America
  • Perforin
  • Pore Forming Cytotoxic Proteins

Substances

  • Membrane Glycoproteins
  • Pore Forming Cytotoxic Proteins
  • Perforin

Associated data

  • GENBANK/M28393
  • OMIM/267700
  • OMIM/603553
  • RefSeq/NM_005041
  • RefSeq/NP_000056
  • SWISSPROT/P10820
  • SWISSPROT/P35763
  • SWISSPROT/P98136