Article
Cystic fibrosis transmembrane conductance regulator (CFTR) activity in nasal epithelial cells from cystic fibrosis patients with severe genotypes.
Clinical science (London, England : 1979) - 1 Oct 2002
Andersson C, Dragomir A, Hjelte L, Roomans G M
Abstract excerpt
Cystic fibrosis is a heterogenic disease, in which the phenotype can also vary for patients with the same genotype. In the present study the function of the cystic fibrosis transmembrane conductance regulator (CFTR) in nasal epithelial cells from 19 adult patients with cystic fibrosis was investigated. All patients had severe mutations, whereby no or little functional CFTR is expected in the plasma membrane. Of...
Topics
- Adolescent
- Adult
- Cells, Cultured
- Chlorides
- Cyclic AMP
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Epithelial Cells
- Female
- Genotype
- Humans
- Male
- Mutation
- Nasal Mucosa
- Phenotype
- Severity of Illness Index