Article
Understanding how cystic fibrosis mutations cause a loss of Cl- channel function.
Molecular medicine today - 1 Jul 1996
Sheppard D N, Ostedgaard L S
Abstract excerpt
Defective epithelial Cl- secretion is the hallmark of the lethal genetic disease cystic fibrosis (CF). This abnormality is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), a regulated Cl- channel. Since the identification of the single gene encoding CFTR, sev...
Topics
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genotype
- Humans
- Models, Molecular
- Mutation
- Patch-Clamp Techniques