title: Mutations in the hypoxanthine-guanine phosphoribosyltransferase gene in Spanish HPRT deficient families.
authors.affiliation: Divisions of Clinical Biochemistry, Universidad Autonoma, Madrid, Spain.
authors.forename: R J
authors.initials: RJ
authors.lastname: Torres
authors.forename: F A
authors.initials: FA
authors.lastname: Mateos
authors.forename: J
authors.initials: J
authors.lastname: Molano
authors.forename: B S
authors.initials: BS
authors.lastname: Gathoff
authors.forename: J P
authors.initials: JP
authors.lastname: O'Neill
authors.forename: R M
authors.initials: RM
authors.lastname: Gundel
authors.forename: L
authors.initials: L
authors.lastname: Trombley
authors.forename: J G
authors.initials: JG
authors.lastname: Puig
mesh_terms: D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D013030:Spain
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase