A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR

Hum Mol Genet. 1994 Jun;3(6):1001-2. doi: 10.1093/hmg/3.6.1001.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Chloride Channels / genetics*
  • Cysteine
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Primers
  • Exons
  • Female
  • Frameshift Mutation*
  • Humans
  • Introns
  • Membrane Proteins / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Tyrosine

Substances

  • CFTR protein, human
  • Chloride Channels
  • DNA Primers
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Tyrosine
  • Cysteine