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Loss of the Tuberous Sclerosis Complex Protein Tuberin Causes Purkinje Cell Degeneration

Tuberous sclerosis complex (TSC) is a neurogenetic disorder that often causes brain abnormalities leading to epilepsy, developmental delay and autism. TSC is caused by inactivating mutations in either of the genes encoding the proteins hamartin (TSC1) and tuberin (TSC2). These proteins form a hetero...

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Detalles Bibliográficos
Main Authors: Reith, R. Michelle, Way, Sharon, McKenna, James, Haines, Katherine, Gambello, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado: 2011
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3096682/
https://ncbi.nlm.nih.gov/pubmed/21419848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2011.02.014
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