Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A)

Pancreas. 2009 Jul;38(5):599-601. doi: 10.1097/MPA.0b013e3181967657.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Family Health
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Phenotype
  • Point Mutation*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator