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Article

[Cystic fibrosis: relationship between genotype and phenotype].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Sept 2003

Bienvenu T

Abstract excerpt

Cystic fibrosis (CF) is one of the most common lethal autosomal recessive disease among the Caucasian population. It is caused by defects in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. More than 1000 different CF mutations have been described. This large heterogeneity of mutations could explain in part the great variability of clinical expression of the disease. However, the severity of...

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Identifiers

PMID: 14671928
DOI: 10.1016/s0929-693x(03)90046-7

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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