Article
Probing the basic defect in cystic fibrosis.
Current opinion in genetics & development - 1 Jun 1991
Tsui L C
Abstract excerpt
The concurrent developments in electrophysiology studies and the identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has provided a unique opportunity to probe the basic cellular defect underlying cystic fibrosis. Various properties of the CFTR protein have been deduced from its primary sequence, the variety of mutations in patients and genotype-phenotype correlations, as well as...
Topics
- Chloride Channels
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Genotype
- Humans
- Ion Channels
- Lung
- Membrane Proteins
- Models, Biological
- Mutation