Transcriptomic Approach to Lesch-Nyhan Disease

Lesch-Nyhan disease (LND) is an X-linked metabolic disease caused by various mutations in the gene HPRT1 encoding an enzyme of purine metabolism, hypoxanthine guanine phosphoribosyltransferase (HPRT). In its most severe form, LND patients suffer from overproduction of uric acid along with neurologic...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Dauphinot, Luce, Mockel, Lionel, Cahu, Julie, Jinnah, H. A., Ledroit, Morgan, Potier, Marie-Claude, Ceballos-Picot, Irène
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
Soggetti:
Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4206182/
https://ncbi.nlm.nih.gov/pubmed/24940671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15257770.2014.880477
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi