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Article

Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.

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

Duguépéroux Ingrid, De Braekeleer Marc

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1000 cystic fibrosis transmembrane conductance regulator (CFTR) mutations presently described. The distribution of the mutations ranges widely between countries and/or ethnic groups. Multicentric studies are usually needed to study the genotype-phenotype correlations. METHODS: Since 1992, the French CF...

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Identifiers

PMID: 15698945
DOI: 10.1016/j.jcf.2004.07.004

Genes

CFTR

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