Article

Screening and functional validations of APP, PSEN1 and PSEN2 mutations from PUMCH dementia cohort

2023-03-07

Abstract excerpt

<h4>Background: </h4> Presenilin 1 ( PSEN1 ), presenilin 2 ( PSEN2 ), and amyloid precursor protein ( APP ) genes have been verified as causative genes for Alzheimer’s disease (AD). The present study aimed to (1) screen for pathogenic mutations in a large sample size Chinses dementia population (Peking Union Medical College Hospital dementia cohort, PUMCH dementia cohort), (2) determine the functional effect of th...

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Identifiers and source

Literature Corpus work: 1ce6beb5-bd68-50dc-9817-859e713442bb
DOI: 10.21203/rs.3.rs-2622824/v1

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