Article
Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.
Nature - 11 Mar 1993
Sheppard D N, Rich D P, Ostedgaard L S, Gregory R J, Smith A E, Welsh M J
Abstract excerpt
The cystic fibrosis transmembrane conductance regulator (CFTR) is a phosphorylation-regulated Cl- channel located in the apical membrane of epithelia. Although cystic fibrosis (CF) is caused by mutations in a single gene encoding CFTR, the disease has a variable clinical phenotype. The most common mutation associated with cystic fibrosis, deletion of a phenylalanine at position 508 (frequency, 67%), is associated...
Topics
- Animals
- Cell Line
- Chloride Channels
- Cyclic AMP
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Epithelium
- HeLa Cells
- Humans
- Ion Channels
- Membrane Potentials