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.
Authors
Felippe Borlot
,
Camila C Aquino
,
Sandra R B R Zoratti
,
Juliana D de Araújo
,
Leslie D Kulikowski
,
Chong A Kim
PMID:
23859867
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