[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 disea...

Topics

• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Gene Expression
• Humans
• Membrane Proteins
• Mutation