title: A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.
authors.affiliation: Centro di Riferimento Regionale per la Fibrosi Cistica, Università degli Studi di Milano, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Padoan
authors.forename: A
authors.initials: A
authors.lastname: Bassotti
authors.forename: M
authors.initials: M
authors.lastname: Seia
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 C
authors.initials: AC
authors.lastname: Rajnoldi
authors.forename: A
authors.initials: A
authors.lastname: Giunta
authors.forename: C
authors.initials: C
authors.lastname: Corbetta
mesh_terms: D000471:Alkalosis / Q000097:blood*; D019943:Amino Acid Substitution / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics; D002675:Child, Preschool; D002712:Chlorides / Q000097:blood*; D003550:Cystic Fibrosis / Q000097:blood / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D001224:Aspartic Acid; D018698:Glutamic Acid