A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis

Clin Genet. 1999 Aug;56(2):173-5. doi: 10.1034/j.1399-0004.1999.560217.x.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Consanguinity
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Homozygote*
  • Humans
  • Japan
  • Mutation, Missense*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator