Identification of a novel missense mutation G239R in exon 6a of the CFTR gene

Hum Hered. 1995 Jan-Feb;45(1):53-4. doi: 10.1159/000154255.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Exons*
  • Female
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*

Substances

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