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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Neurofibromatosis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715975/
http://dx.doi.org/10.1093/neuonc/noaa222.618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715975/
http://dx.doi.org/10.1093/neuonc/noaa222.618

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