Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
Zielenski
J
J
Department of Genetics, Hospital for Sick Children, Toronto, Canada.
Patrizio
P
P
Markiewicz
D
D
Asch
R H
RH
Tsui
L C
LC
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*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator