title: A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.
authors.affiliation: Laboratoire de Biochimie Génétique, CHU Cochin, Paris, France.
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: D
authors.initials: D
authors.lastname: Hubert
authors.forename: E
authors.initials: E
authors.lastname: Setbon
authors.forename: D
authors.initials: D
authors.lastname: Dusser
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
mesh_terms: D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator