Clinical utility gene card for: Lesch-Nyhan syndrome

Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.109. Epub 2010 Jul 21.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics
  • Lesch-Nyhan Syndrome / diagnosis
  • Lesch-Nyhan Syndrome / genetics*
  • Mutation
  • Predictive Value of Tests
  • Sensitivity and Specificity

Substances

  • Hypoxanthine Phosphoribosyltransferase