title: Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity.
authors.affiliation: Department of Internal Medicine, University of Michigan, Ann Arbor 49104.
authors.forename: B J
authors.initials: BJ
authors.lastname: Roessler
authors.forename: N
authors.initials: N
authors.lastname: Golovoy
authors.forename: T D
authors.initials: TD
authors.lastname: Palella
authors.forename: S
authors.initials: S
authors.lastname: Heidler
authors.forename: M A
authors.initials: MA
authors.lastname: Becker
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006073:Gout / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009154:Mutation; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics*; D014527:Uric Acid / Q000378:metabolism; D014960:X Chromosome
chemical_list: D014527:Uric Acid; D004247:DNA; D012268:Ribose-Phosphate Pyrophosphokinase