Article
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.
The Journal of pediatrics - 1 Nov 1995
Wilschanski M, Zielenski J, Markiewicz D, Tsui L C, Corey M, Levison H, Durie P R
Abstract excerpt
OBJECTIVE: To compare differences in epithelial chloride conductance according to class of mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. METHODS: We evaluated the relationship between the functional classes of CFTR mutations and chloride conductance using the first diagnostic sweat chloride concentration in a large cystic fibrosis (CF) population. RESULTS: There was no...
Topics
- Child
- Child, Preschool
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genes, Regulator
- Genotype
- Heterozygote
- Homozygote
- Humans
- Mutation
