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Genetics of Lafora progressive myoclonic epilepsy: current perspectives
Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates of polyglucosan, a long...
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| Publicado no: | Appl Clin Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4859416/ https://ncbi.nlm.nih.gov/pubmed/27194917 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S57890 |
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