Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients

J Med Genet. 2002 Nov;39(11):e73. doi: 10.1136/jmg.39.11.e73.
No abstract available

MeSH terms

  • Adolescent
  • Adult
  • Alternative Splicing / genetics*
  • Child
  • Child, Preschool
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exocrine Pancreatic Insufficiency / complications*
  • France
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Mutation
  • Phenotype

Substances

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

Associated data

  • OMIM/219700