Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.

doi:10.1183/09031936.96.09112207

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Article

Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.

The European respiratory journal - 1 Nov 1996

Hubert D, Bienvenu T, Desmazes-Dufeu N, Fajac I, Lacronique J, Matran R, Kaplan J C, Dusser D J

Abstract excerpt

In cystic fibrosis (CF), relationships between genotype and phenotype have been shown for pancreatic status but not for pulmonary disease. One hundred and ten adult CF patients were classified according to the expected effect of their mutations on cystic fibrosis transmembrane conductance regulator (CFTR) protein: Group 1 (n=48) included deltaF508 homozygotes; Group 2 (n=26), patients with two "severe" mutations...

Topics

Adolescent
Adult
Arteries
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Exocrine Pancreatic Insufficiency
Female
Forced Expiratory Volume
Genotype
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Mutation

Oxygen

Phenotype

Pseudomonas aeruginosa

Respiratory System

Source

Open in PubMed

Identifiers

PMID: 8947061
DOI: 10.1183/09031936.96.09112207

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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