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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: Romá-Mateo, Carlos, Sanz, Pascual, Gentry, Matthew S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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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