Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity

Adv Exp Med Biol. 1991:309B:125-8. doi: 10.1007/978-1-4615-7703-4_28.
No abstract available

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • DNA Mutational Analysis
  • Genetic Linkage
  • Gout / genetics
  • Gout / metabolism
  • Humans
  • Mutation
  • Ribose-Phosphate Pyrophosphokinase / genetics*
  • Uric Acid / metabolism
  • X Chromosome

Substances

  • Uric Acid
  • DNA
  • Ribose-Phosphate Pyrophosphokinase