Gene symbol: CFTR. Disease: Cystic fibrosis

Hum Genet. 2004 Mar;114(4):403.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Codon / genetics
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Heterozygote
  • Humans
  • Male
  • Point Mutation
  • Pregnancy
  • Prenatal Diagnosis

Substances

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