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Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer’s Disease

Presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) mutations are responsible for autosomal dominant early-onset Alzheimer’s disease (AD-EOAD). To analyze the phenotypes and genotypes of EOAD patients, we performed comprehensive clinical assessments as well as mutation sc...

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Detalles Bibliográficos
Autores principales: Li, Yu-Sheng, Yang, Zhi-Hua, Zhang, Yao, Yang, Jing, Shang, Dan-Dan, Zhang, Shu-Yu, Wu, Jun, Ji, Yan, Zhao, Lu, Shi, Chang-He, Xu, Yu-Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: JKL International LLC 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6675531/
https://www.ncbi.nlm.nih.gov/pubmed/31440394
http://dx.doi.org/10.14336/AD.2018.1109