Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese

Adv Exp Med Biol. 2000:486:29-33. doi: 10.1007/0-306-46843-3_6.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Exons
  • Gout / enzymology*
  • Gout / genetics
  • Gout / physiopathology
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Japan
  • Lesch-Nyhan Syndrome / enzymology*
  • Lesch-Nyhan Syndrome / genetics
  • Lesch-Nyhan Syndrome / physiopathology
  • Male
  • Mutation*
  • Mutation, Missense
  • Phenotype
  • Point Mutation

Substances

  • Hypoxanthine Phosphoribosyltransferase