title: A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.
authors: Dipartimento Medicina di Laboratorio, Settore di Genetica Molecolare, AO Istituti Clinici di Perfezionamento, Milano, Italy.
authors: M
authors: M
authors: Seia
authors: A
authors: A
authors: Cantù-Rajnoldi
authors: A
authors: A
authors: Ambrosioni
authors: S
authors: S
authors: Fiori
authors: A
authors: A
authors: Bassotti
authors: G
authors: G
authors: Pizzamiglio
authors: A
authors: A
authors: Giunta
authors: R
authors: R
authors: Padoan
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics; D005091:Exons / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D018410:Pneumonia, Bacterial / Q000235:genetics; D013203:Staphylococcal Infections / Q000235:genetics; D014364:Tryptophan / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014364:Tryptophan