Clinical Severity in Lesch-Nyhan Disease: the Role of Residual Enzyme and Compensatory Pathways

Mutations in the HPRT1 gene, which encodes the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), cause Lesch-Nyhan disease (LND) and more mildly affected Lesch-Nyhan variants. Prior studies have suggested a strong correlation between residual hypoxanthine recycling activi...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Metab
Auteurs principaux: Fu, Rong, Sutcliffe, Diane, Zhao, Hong, Huang, Xinyi, Schretlen, David J., Benkovic, Steve, Jinnah, H. A.
Format: Artigo
Langue:Inglês
Publié: 2014
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4277921/
https://ncbi.nlm.nih.gov/pubmed/25481104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.11.001
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires