A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease

Pediatr Neurol. 2013 Aug;49(2):e5-7. doi: 10.1016/j.pediatrneurol.2013.03.012.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Lesch-Nyhan Syndrome / genetics*
  • Male
  • Mutation / genetics*

Substances

  • Hypoxanthine Phosphoribosyltransferase