A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child

Am J Hum Genet. 1998 Mar;62(3):723-6. doi: 10.1086/301750.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alleles*
  • Alternative Splicing
  • Child, Preschool
  • Fibroblasts / drug effects
  • Heterozygote*
  • Humans
  • Interferon gamma Receptor
  • Interferon-gamma / pharmacology*
  • Mutation
  • RNA, Messenger / genetics
  • Receptors, Interferon / genetics*

Substances

  • RNA, Messenger
  • Receptors, Interferon
  • Interferon-gamma