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

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第一作者： Liling,Dong

第一单位： Neurology Department, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

作者： Liling,Dong ^[1] ; Caiyan,Liu ^[1] ; Longze,Sha ^[2] ; Chenhui,Mao ^[1] ; Jie,Li ^[1] ; Xinying,Huang ^[1] ; Jie,Wang ^[1] ; Shanshan,Chu ^[1] ; Bin,Peng ^[1] ; Liying,Cui ^[1] ; Qi,Xu ^[2] ; Jing,Gao ^[1]

作者单位： Neurology Department, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. ^[1] Institute of Basic Medical Sciences, Peking Union Medical College, Beijing, China. ^[2]

关键词 Alzheimer’s disease PSEN2 pathogenic mutations

主题词阿尔茨海默病(Alzheimer Disease);淀粉样β蛋白前体(Amyloid beta-Protein Precursor);HEK293细胞(HEK293 Cells);人类(Humans);突变(Mutation);早老素2(Presenilin-2)

DOI 10.3233/JAD-220194

PMID 35491795

发布时间 2022-07-26

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