title: A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.
authors.affiliation: Centro di Riferimento Regionale per la Fibrosi Cistica, Università degli Studi, Milano.
authors.forename: R
authors.initials: R
authors.lastname: Padoan
authors.forename: D
authors.initials: D
authors.lastname: Costantini
authors.forename: M C
authors.initials: MC
authors.lastname: Russo
authors.forename: A
authors.initials: A
authors.lastname: Ambrosioni
authors.forename: S
authors.initials: S
authors.lastname: Fiori
authors.forename: S
authors.initials: S
authors.lastname: Prandoni
authors.forename: A
authors.initials: A
authors.lastname: Cantù-Rajnoldi
authors.forename: M
authors.initials: M
authors.lastname: Seia
authors.forename: A
authors.initials: A
authors.lastname: Giunta
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D000818:Animals; D003545:Cysteine / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D020125:Mutation, Missense / Q000235:genetics*; D051381:Rats; D014443:Tyrosine / Q000235:genetics
chemical_list: D018528:ATP-Binding Cassette Transporters; C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014443:Tyrosine; D003545:Cysteine