title: A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.
authors.forename: Felippe
authors.initials: F
authors.lastname: Borlot
authors.forename: Camila C
authors.initials: CC
authors.lastname: Aquino
authors.forename: Sandra R B R
authors.initials: SR
authors.lastname: Zoratti
authors.forename: Juliana D
authors.initials: JD
authors.lastname: de Araújo
authors.forename: Leslie D
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Chong A
authors.initials: CA
authors.lastname: Kim
mesh_terms: D002675:Child, Preschool; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase