The molecular basis for disease variability in cystic fibrosis.

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized by a wide variability of clinical expression. The cloning of the CFTR gene and the identification of its mutations has p...

Topics

• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Genetic Variation
• Genotype
• Humans
• Male
• Mutation
• Phenotype
• Vas Deferens