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PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer’s Disease: Data from PUMCH Dementia Cohort

BACKGROUND: The established causative mutations in the APP, PSEN1, and PSEN2 can explain less than 1%,Alzheimer’s disease (AD) patients. Of the identified variants, the PSEN2 mutations are even less common. OBJECTIVE: With the genetic study from the dementia cohort of Peking Union Medical College Ho...

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Detalles Bibliográficos
Autores principales:	Dong, Liling, Liu, Caiyan, Sha, Longze, Mao, Chenhui, Li, Jie, Huang, Xinying, Wang, Jie, Chu, Shanshan, Peng, Bin, Cui, Liying, Xu, Qi, Gao, Jing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277672/ https://www.ncbi.nlm.nih.gov/pubmed/35491795 http://dx.doi.org/10.3233/JAD-220194

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