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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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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
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| Schlagworte: | |
| Online Zugang: | 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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