Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene

J Med Genet. 1993 Jul;30(7):621-2. doi: 10.1136/jmg.30.7.621-c.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Celiac Disease / etiology
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exocrine Pancreatic Insufficiency / complications
  • Exocrine Pancreatic Insufficiency / etiology*
  • Humans
  • Infant, Newborn
  • Intestinal Obstruction / etiology
  • Lung / microbiology
  • Lung / physiology
  • Male
  • Meconium
  • Membrane Proteins / genetics*
  • Phenotype
  • Point Mutation*

Substances

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