title: Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
authors.forename: P
authors.initials: P
authors.lastname: Patrizio
authors.forename: D
authors.initials: D
authors.lastname: Markiewicz
authors.forename: R H
authors.initials: RH
authors.lastname: Asch
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
mesh_terms: D000013:Congenital Abnormalities / Q000235:genetics; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator