[Molecular basis of phenotype heterogeneity in cystic fibrosis].

Abstract excerpt

The cystic fibrosis transmembrane conductance regulator (CFTR) gene, responsible for the cystic fibrosis phenotype, was cloned and sequenced in 1989. Since then, more than 650 mutations have been reported. The analysis of the entire coding sequence of the CFTR gene (27 exons) has been able to characterize more than 90% of the mutations in different populations. Moreover, screening of the entire coding and...

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