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NFB-16. mTOROPATHIES AND SUBEPENDYMAL GIANT CELL ASTROCYTOMAS: PREDICTIVE VALUE OF GERMINAL TSC1/2 MUTATIONS SCREENING IN FAMILIAL CASES
mTOR controls several important aspects of cell function particularly in the nervous system. Its hyperactivation has been involved in tuberous sclerosis complex (TSC) and other mTORopathies as well as drug-resistant epilepsy. Mutations in TSC1 and TSC2 genes cause loss of normal inhibition of mTORC1...
Autores principales: | Abdelmoula, Nouha Bouayed, Smaoui, Walid, Abdelmoula, Balkiss, Aloulou, Samir, Masmoudi, Imen, Bouaziz, Imen, Lamloum, Ines, Chaari, Hadil, Yaich, Asma, Dhouib, Rafik, Sellami, Sonia, Keskes, Mariem, Fellah, Sourour, Khlifi, Khawla, Medhioub, Amir, Mhiri, Nabil |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715975/ http://dx.doi.org/10.1093/neuonc/noaa222.618 |
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