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Article

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Dec 2004

des Georges Marie, Guittard Caroline, Altiéri Jean-Pierre, Templin Carine, Sarles Jacques, Sarda Pierre, Claustres Mireille

Abstract excerpt

In this report, we present updated spectrum and frequency of mutations of the CFTR gene that are responsible for cystic fibrosis (CF) in Languedoc-Roussillon (L-R), the southwestern part of France. A total of 75 different mutations were identified by DGGE in 215 families, accounting for 97.6% of CF genes and generating 88 different mutational genotypes. The frequency of p.F508del was 60.23% in L-R versus 67.18%...

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Identifiers

PMID: 15698946
DOI: 10.1016/j.jcf.2004.04.008

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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