title: p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).
authors.affiliation: Cystic Fibrosis Center, Pediatric Center Bambino Gesù Basilicata, AOR Hospital San Carlo, Potenza, Italy. donatello.salvatore@libero.it.
authors.forename: Donatello
authors.initials: D
authors.lastname: Salvatore
authors.affiliation: Unit of Cytogenetics and Molecular Genetics, Madonna delle Grazie Hospital, Matera, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Dell'Edera
authors.affiliation: Cystic Fibrosis Center, Pediatric Center Bambino Gesù Basilicata, AOR Hospital San Carlo, Potenza, Italy.
authors.forename: Carmela
authors.initials: C
authors.lastname: Colangelo
authors.affiliation: Laboratory of Biochemistry, AOR Hospital San Carlo, Potenza, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Smaldore
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D008297:Male; D052801:Male Urogenital Diseases / Q000150:complications*; D009154:Mutation; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator