Article
The cystic fibrosis transmembrane conductance regulator gene.
American journal of respiratory and critical care medicine - 1 Mar 1995
Tsui L C
Abstract excerpt
Since identification of the gene responsible for cystic fibrosis (CF) in 1989, significant progress has been made in elucidating the mutational basis for this severe, autosomal recessive disease. Such advances have been of major importance in furthering our understanding of the basic defect in CF. Studies of the protein product of the CF gene, referred to as the CF transmembrane conductance regulator (CFTR),...
Topics
- Amino Acid Sequence
- Chloride Channels
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genes, Regulator
- Genotype
- Humans
- Membrane Proteins
- Mutation
- Phenotype
- Sequence Deletion