[Cystic fibrosis gene mutations in the West of France: clinical application].

Abstract excerpt

The cystic fibrosis transmembrane conductance regulator (CFTR) gene, responsible for the cystic fibrosis phenotype when both alleles are mutated, was cloned and sequenced in 1989. Since then, more than 400 mutations have been reported in the gene, although most of these are rare. We have systematically analysed the entire coding sequence of the CFTR gene in a cohort of patients originating from the West of France...

Topics

• Child
• Cystic Fibrosis
• France
• Humans
• Mutation