Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype

Hum Mol Genet. 1993 Oct;2(10):1741-2. doi: 10.1093/hmg/2.10.1741.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • Chloride Channels / genetics*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Genes*
  • Humans
  • Male
  • Membrane Proteins* / genetics*
  • Molecular Sequence Data
  • Phenotype
  • Point Mutation*
  • Vas Deferens / abnormalities

Substances

  • CFTR protein, human
  • Chloride Channels
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator