title: Point mutations in PRPS1, the gene encoding the PRPP synthetase (PRS) 1 isoform, underlie X-linked PRS superactivity associated with purine nucleotide inhibitor-resistance.
authors.affiliation: University of Chicago, IL, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Becker
authors.forename: J M
authors.initials: JM
authors.lastname: Nosal
authors.forename: R L
authors.initials: RL
authors.lastname: Switzer
authors.forename: P R
authors.initials: PR
authors.lastname: Smith
authors.forename: T D
authors.initials: TD
authors.lastname: Palella
authors.forename: B J
authors.initials: BJ
authors.lastname: Roessler
mesh_terms: D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D011685:Purine Nucleotides / Q000494:pharmacology*; D011994:Recombinant Proteins / Q000037:antagonists & inhibitors; D012268:Ribose-Phosphate Pyrophosphokinase / Q000037:antagonists & inhibitors* / Q000235:genetics*; D014960:X Chromosome
chemical_list: D007527:Isoenzymes; D011685:Purine Nucleotides; D011994:Recombinant Proteins; D012268:Ribose-Phosphate Pyrophosphokinase