title: French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism.
abstract: The authors describe a cystic fibrosis family genotype analysis showing that the R297Q amino acid change is a rare polymorphism rather than a deleterious mutation as previously reported. Indeed in this family two healthy subjects have the following genotypes: delta F508/R297Q and N1303K/R297Q.
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Ponchaillou, Rennes, France.
authors.forename: I
authors.initials: I
authors.lastname: Dorval
authors.forename: P
authors.initials: P
authors.lastname: Jézéquel
authors.forename: B
authors.initials: B
authors.lastname: Chauvel
authors.forename: C
authors.initials: C
authors.lastname: Dubourg
authors.forename: P
authors.initials: P
authors.lastname: Fergelot
authors.forename: J Y
authors.initials: JY
authors.lastname: Le Gall
authors.forename: M
authors.initials: M
authors.lastname: Roussey
authors.forename: M
authors.initials: M
authors.lastname: Blayau
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator