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Biallelic TSC gene inactivation in tuberous sclerosis complex

BACKGROUND: A pivotal developmental question is whether tubers in tuberous sclerosis complex (TSC) form by germline and somatic TSC1 or TSC2 gene mutations. Loss of TSC1 or TSC2 in vitro and in vivo leads to mTORC1 cascade activation and ribosomal protein S6 phosphorylation (P-S6). Giant cells (GCs)...

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Main Authors: Crino, Peter B., Aronica, Eleonora, Baltuch, Gordon, Nathanson, Katherine L.
格式: Artigo
語言:Inglês
出版: American Academy of Neurology 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2882213/
https://ncbi.nlm.nih.gov/pubmed/20498439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181e04325
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