A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRT HongKong), in a Chinese teenager with recurrent gouty arthritis

Clin Chim Acta. 2007 May 1;380(1-2):252-3. doi: 10.1016/j.cca.2007.02.030. Epub 2007 Feb 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Arthritis, Gouty / diagnosis*
  • Arthritis, Gouty / enzymology
  • Arthritis, Gouty / genetics
  • China
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Ligands
  • Male
  • Mutation / genetics*

Substances

  • Ligands
  • Hypoxanthine Phosphoribosyltransferase