Article
A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.
Pediatrics - 1 Sept 1997
Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, Yahav Y, Szeinberg A, Hiba O, Branski D, Corey M, Kerem B
Abstract excerpt
OBJECTIVE: Cystic fibrosis (CF) has variable clinical presentation. Disease severity is partially associated with the type of mutation. The aim of this study was to report genotype-phenotype analysis of the G85E mutation. PATIENTS: The phenotype of 12 patients (8 were from the same extended famil...
Topics
- Age of Onset
- Child
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Female
- Forced Expiratory Volume
- Genetic Variation
- Genotype
- Humans
- Infant
- Male
- Mutation
- Nuclear Family
- Pancreas
- Phenotype
- Severity of Illness Index