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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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Autors principals: Sherwood, Amanda R., Johnson, Mary Beth, Delgado-Escueta, Antonio V., Gentry, Matthew S.
Format: Artigo
Idioma:Inglês
Publicat: 2013
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Accés en línia: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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