Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation

J Med Genet. 1995 May;32(5):406-7. doi: 10.1136/jmg.32.5.406.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Female
  • Greece
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics
  • Phenotype
  • Point Mutation / genetics
  • RNA Splicing / genetics

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator