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...
Topics
- Base Sequence
- Cohort Studies
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Genetic Carrier Screening
- Homozygote
- Humans
- Infant, Newborn
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Neonatal Screening
- Retrospective Studies