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Article

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

European journal of pediatrics - 1 Dec 1993

Borgo G, Gasparini P, Bonizzato A, Cabrini G, Mastella G, Pignatti P F

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...

Topics

Child
Cohort Studies
Cystic Fibrosis
Female
Forced Expiratory Volume
Genotype
Heterozygote
Humans
Lung
Male
Mutation
Nutritional Status

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Source

Identifiers

PMID: 8131801
DOI: 10.1007/BF01957227

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8131801-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.PMID 8131801Read ↗

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