Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator

Retrospective study of the cystic fibros

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

✍ C. Verlingue; B. Mercier; I. Lecoq; M. P. Audrézet; D. Laroche; G. Travert; C. F 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 707 KB

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 p