Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777.
No abstract available

Publication types

  • Comparative Study
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alternative Splicing / genetics*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Europe
  • Female
  • Genotype
  • Haplotypes
  • Homozygote
  • Humans
  • Male
  • Phenotype
  • Point Mutation
  • Sequence Deletion / genetics*
  • Severity of Illness Index

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA