Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

J Med Genet. 2001 Sep;38(9):643-6. doi: 10.1136/jmg.38.9.643.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Codon, Nonsense / genetics
  • Codon, Terminator / genetics
  • Consanguinity
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Ghana
  • Histiocytosis, Non-Langerhans-Cell / genetics*
  • Histiocytosis, Non-Langerhans-Cell / pathology
  • Humans
  • Infant
  • Italy
  • Male
  • Membrane Glycoproteins / chemistry
  • Membrane Glycoproteins / genetics*
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Perforin
  • Pore Forming Cytotoxic Proteins
  • Protein Structure, Tertiary
  • Treatment Outcome
  • Turkey

Substances

  • Codon, Nonsense
  • Codon, Terminator
  • Membrane Glycoproteins
  • Pore Forming Cytotoxic Proteins
  • Perforin

Grants and funding