Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype

J Med Genet. 2000 Apr;37(4):307-9. doi: 10.1136/jmg.37.4.307.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype
  • Point Mutation

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator