Article
Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations.
Pediatric research - 1 Aug 1992
Liechti-Gallati S, Bonsall I, Malik N, Schneider V, Kraemer L G, Ruedeberg A, Moser H, Kraemer R
Abstract excerpt
A striking clinical phenomenon of cystic fibrosis is the heterogeneous disease expression. It must therefore be assumed that the nature of the mutations associated with cystic fibrosis might partly determine the phenotypic manifestations. The relation between the cystic fibrosis mutations delta F508, R553X, and 3905insT and clinical parameters such as sweat test electrolytes, age at chronic Pseudomonas aeruginosa...
Topics
- Adolescent
- Adult
- Age Factors
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Genotype
- Heterozygote
- Homozygote