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A Bioassay for Lafora Disease and Laforin Glucan Phosphatase Activity

OBJECTIVES: Lafora disease is a rare yet invariably fatal form of progressive neurodegenerative epilepsy resulting from mutations in the phosphatase laforin. Several therapeutic options for Lafora disease patients are currently being explored, and these therapies would benefit from a biochemical mea...

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Detalhes bibliográficos
Main Authors: Sherwood, Amanda R., Johnson, Mary Beth, Delgado-Escueta, Antonio V., Gentry, Matthew S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3864130/
https://ncbi.nlm.nih.gov/pubmed/24012855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clinbiochem.2013.08.016
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