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Lesch-Nyhan Syndrome: Models, Theories, and Therapies
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precis...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5131334/ https://ncbi.nlm.nih.gov/pubmed/27920633 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000449296 |
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