title: A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.
authors.affiliation: CEINGE scarl and Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli "Federico II", Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Castaldo
authors.forename: A
authors.initials: A
authors.lastname: Fuccio
authors.forename: C
authors.initials: C
authors.lastname: Cazeneuve
authors.forename: L
authors.initials: L
authors.lastname: Picci
authors.forename: D
authors.initials: D
authors.lastname: Salvatore
authors.forename: M
authors.initials: M
authors.lastname: Scarpa
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D002648:Child; D002897:Chromosomes, Human, Pair 7; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D020125:Mutation, Missense
chemical_list: C505032:CFTR protein, human; D018389:Codon, Nonsense; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator