title: Autosomal dominant polycystic kidney disease: identification of two polymorphisms.
abstract: The identification of polymorphism A4059V associated with the 12276 A>G at exon 45 of the PKD1 gene in a Tunisian polycystic patient.
authors.affiliation: Laboratoire de biochimie et biologie moléculaire, Hôpital d'enfant, Tunis, Tunisie.
authors.forename: Safa
authors.initials: S
authors.lastname: Sahnoun
authors.affiliation: Service de néphrologie et médecine A, Tunis, Tunisie.
authors.forename: Samia
authors.initials: S
authors.lastname: Barbouch
authors.affiliation: Laboratoire de biochimie et biologie moléculaire, Hôpital d'enfant, Tunis, Tunisie.
authors.forename: Sondess
authors.initials: S
authors.lastname: Hadj Fredj
authors.affiliation: Service de néphrologie et médecine A, Tunis, Tunisie.
authors.forename: Adel
authors.initials: A
authors.lastname: Khedher
authors.affiliation: Laboratoire de biochimie et biologie moléculaire, Hôpital d'enfant, Tunis, Tunisie.
authors.forename: Taieb
authors.initials: T
authors.lastname: Messaoud
mesh_terms: D001483:Base Sequence; D006801:Humans; D008297:Male; D008875:Middle Aged; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide; D050396:TRPP Cation Channels / Q000235:genetics*; D014416:Tunisia
chemical_list: D050396:TRPP Cation Channels
keywords: Tunisian ADPKD patient; polycystic kidney disease; polymorphisms