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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...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | 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 |
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