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320 Genetic Compensation as a mechanism underlying patients with Rare ALS

OBJECTIVES/GOALS: Rare mutations in CHCHD10 gene are found in 1% of patients with familial Amyotrophic lateral sclerosis (ALS). The overall goal of this study is to utilize induced pluripotent stem cells (iPSCs) as an in vitro model organism for rare ALS variants to evaluate the mechanism of transcr...

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Detalles Bibliográficos
Autores principales: Gomez, Adriana Morales, Staff, Nathan, Ekker, Stephen C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9209178/
http://dx.doi.org/10.1017/cts.2022.178