Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype

Clin Genet. 2003 Sep;64(3):266-8. doi: 10.1034/j.1399-0004.2003.00140.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Chlorides / analysis
  • Codon, Terminator / genetics
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / chemistry
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Exons / genetics*
  • Female
  • Frameshift Mutation*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Phenotype
  • RNA, Messenger / genetics
  • Sweat / chemistry

Substances

  • CFTR protein, human
  • Chlorides
  • Codon, Terminator
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator