Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.

Abstract excerpt

Cystic fibrosis (CF) phenotypes are determined by mutations in the CF gene, genetic background, and environment. The nature of the cystic fibrosis transmembrane conductance regulator (CFTR) mutation determines the extent of protein function. CFTR mutations that abolish protein function are associ...

Topics

• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Humans
• Mutation
• Phenotype
• Point Mutation