title: Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome.
authors.affiliation: Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Mizunuma
authors.forename: S
authors.initials: S
authors.lastname: Fujimori
authors.forename: K
authors.initials: K
authors.lastname: Kaneko
authors.forename: N
authors.initials: N
authors.lastname: Kamatani
mesh_terms: D020087:Alu Elements; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007564:Japan; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics; D011995:Recombination, Genetic
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase