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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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Reith, R. Michelle, Way, Sharon, McKenna, James, Haines, Katherine, Gambello, Michael J.
Format: Artigo
Langue:Inglês
Publié: 2011
Sujets:
Accès en ligne: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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