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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Sherwood, Amanda R., Johnson, Mary Beth, Delgado-Escueta, Antonio V., Gentry, Matthew S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Mynediad Ar-lein: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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