Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability

Pancreas. 2009 Jan;38(1):109-10. doi: 10.1097/MPA.0b013e3181671b9c.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pancreatitis / complications
  • Pancreatitis / diagnosis
  • Pancreatitis / genetics*
  • Pedigree
  • Phenotype
  • Young Adult

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator