Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene

Lancet. 1991 Jul 20;338(8760):189. doi: 10.1016/0140-6736(91)90181-n.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Codon
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Female
  • Homozygote*
  • Humans
  • Infant, Newborn
  • Membrane Proteins / genetics*
  • Mutation / genetics*

Substances

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