title: Rapid detection of 1078 delT mutation by PCR-mediated site-directed mutagenesis: detection of cystic fibrosis carriers in a celtic population.
authors.affiliation: Lab. de Génét. Moléc., CHU Pontchaillou, Rennes, France.
authors.forename: I
authors.initials: I
authors.lastname: Dorval
authors.forename: P
authors.initials: P
authors.lastname: Fergelot
authors.forename: C
authors.initials: C
authors.lastname: Dubourg
authors.forename: P
authors.initials: P
authors.lastname: Jézéquel
authors.forename: B
authors.initials: B
authors.lastname: Chauvel
authors.forename: J Y
authors.initials: JY
authors.lastname: Le Gall
authors.forename: A
authors.initials: A
authors.lastname: Le Treut
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator