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.

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