title: Identification of a novel missense mutation G239R in exon 6a of the CFTR gene.
authors.affiliation: Laboratoire de Biochimie Génétique, INSERUM U 129, Université René Descartes, Paris V, France.
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: C
authors.initials: C
authors.lastname: Cazeneuve
authors.forename: I
authors.initials: I
authors.lastname: Fajac
authors.forename: D
authors.initials: D
authors.lastname: Dusser
authors.forename: D
authors.initials: D
authors.lastname: Hubert
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator