Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X

J Med Genet. 1994 Jan;31(1):84-5. doi: 10.1136/jmg.31.1.84-a.
No abstract available

Publication types

  • Letter

MeSH terms

  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Gastrointestinal Diseases / complications*
  • Homozygote
  • Humans
  • Infant
  • Lung Diseases, Obstructive / complications*
  • Membrane Proteins / genetics
  • Mutation*

Substances

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