L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis.

Abstract excerpt

Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 400 mutations have been reported at this locus. Although severe forms of cystic fibrosis are usually associated with pancreatic insufficiency, pulmonary dysfunction, and elevated sweat chloride, there is a wide range of phenotypes, including congenital absence of the vas deferens, observed with some...

Topics

• Adult
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• DNA
• Female
• France
• Humans
• Infant
• Male
• Membrane Proteins
• Middle Aged