Identification of a Novel Missense Mutation (G314E) in Exon 7 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Identified in a CF Patient With Pancreatic Sufficiency

Hum Mutat. 1994;3(1):67-8. doi: 10.1002/humu.1380030112.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / analysis
  • DNA Mutational Analysis
  • Exons
  • Female
  • Genes / genetics
  • Genetic Testing
  • Germany
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation / genetics*
  • Polymerase Chain Reaction

Substances

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