[The cystic fibrosis gene: mutation and the function of CFTR protein].

Abstract excerpt

The spectrum of mutations identified in cystic fibrosis patients includes a major defect (delta F508), found in 70% of CF chromosomes from French patients, and a large number of infrequent mutations. This significant heterogeneity of molecular defects precludes large scale screening for the disease at the time being. The presumptive structure of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR), the...

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