A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

Hum Mol Genet. 1993 Jan;2(1):79-80. doi: 10.1093/hmg/2.1.79.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Child
  • Codon / genetics
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exons
  • Genotype
  • Glutamates
  • Glutamic Acid
  • Humans
  • Lysine
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • CFTR protein, human
  • Codon
  • Glutamates
  • Membrane Proteins
  • Oligodeoxyribonucleotides
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Glutamic Acid
  • Lysine