Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.

Abstract excerpt

In an attempt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis patients with known genotype at an age of 8.5-10 years. Patients represent a cohort as they are almost all those born and diagnosed in a given area and period. They were followed at a single centre using uniform diagnostic and treatment protocols. Pulmonary and...

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