A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient

Hum Mol Genet. 1994 Feb;3(2):365-6. doi: 10.1093/hmg/3.2.365.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Codon
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exons*
  • Genes*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*

Substances

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