Relationship between genotype and phenotype for the CFTR gene W846X mutation

J Med Genet. 2002 Jun;39(6):E32. doi: 10.1136/jmg.39.6.e32.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Phenotype
  • Point Mutation*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator