Article
Cystic fibrosis phenotype associated with pancreatic insufficiency does not always reflect the cAMP-dependent chloride conductive pathway defect. Analysis of C225R-CFTR and R1066C-CFTR.
The Journal of biological chemistry - 28 Nov 1997
Fanen P, Labarthe R, Garnier F, Benharouga M, Goossens M, Edelman A
Abstract excerpt
We have previously screened the cystic fibrosis transmembrane conductance regulator (CFTR) gene and identified new disease-causing mutations. C225R and R1066C are both associated with pancreatic insufficiency, but the former mutation is associated with mild and unusual lung disease, whereas the l...
Topics
- Amino Acid Substitution
- Chlorides
- Cyclic AMP
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Humans
- Pancreas
- Phenotype
- Structure-Activity Relationship