Article
Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.
Human genetics - 1 Apr 1994
Verlingue C, Mercier B, Lecoq I, Audrézet M P, Laroche D, Travert G, Férec C
Abstract excerpt
The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. With more than 300 mutations so far described in the gene the profile of mutant alleles in a population is specific to its ethnic origin. For an analysis with an unbiased recruitment of the CF alleles in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.