title: F329L polymorphism in the human PAX8 gene.
abstract: We screened patients with juvenile nephronophthisis for mutations of the tightly linked PAX8 gene. No disease-associated mutations were found, but we identified the first known human PAX8 polymorphism, F329L, in 1 of 15 patients and 2 of 20 controls. This polymorphic variant involves a conservative amino acid change (phenylalanine to leucine) in the C-terminal portion of the PAX8 protein.
authors.affiliation: Department of Experimental Medicine, McGill University, Quebec, Canada.
authors.forename: E
authors.initials: E
authors.lastname: Torban
authors.forename: J
authors.initials: J
authors.lastname: Pelletier
authors.forename: P
authors.initials: P
authors.lastname: Goodyer
mesh_terms: D019943:Amino Acid Substitution; D005091:Exons; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational