Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome

Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons
  • Humans
  • Korea / ethnology
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data

Substances

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