title: Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
authors.affiliation: Institut für Humangenetik, Universitäts-Klinikum Eppendorf, Hamburg, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Willers
authors.forename: H
authors.initials: H
authors.lastname: Bolz
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D009154:Mutation
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase