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Reference - PMID:23859867 - A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.

Reference summary

PubMed ID
PMID:23859867
Title
A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.
Authors
Borlot F, Aquino CC, Zoratti SR, de Araújo JD, Kulikowski LD, Kim CA
Citation
Pediatr Neurol 2013 Aug;49(2):e5-7
Publication year
2013
Abstract

Annotation

Disease association

MONDO:0010298 - Lesch-Nyhan syndrome

Genes:

MONDO:0005071 - nervous system disorder

Genes: