Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis

Clin Genet. 2005 Jun;67(6):529-31. doi: 10.1111/j.1399-0004.2005.00437.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Homozygote*
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Phenotype

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator