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Deciphering the role of malin in the Lafora progressive myoclonus epilepsy
Lafora disease (LD) is a fatal, autosomal recessive neurodegenerative disorder that results in progressive myoclonus epilepsy. A hallmark of LD is the accumulation of insoluble, aberrant glycogen-like structures called Lafora bodies. LD is caused by mutations in the gene encoding the E3 ubiquitin li...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2012
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3458166/ https://ncbi.nlm.nih.gov/pubmed/22815132 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/iub.1072 |
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