Article
PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.
Scientific reports - 26 Feb 2020
Kim Young-Eun, Cho Hanna, Kim Hee Jin, Na Duk L, Seo Sang Won, Ki Chang-Seok
Abstract excerpt
Pathogenic variants in the PSEN1 gene are known to be the most common cause of early-onset Alzheimer's disease but there are few data on the frequency and spectrum of PSEN1 variants in Korea. In this study, we investigated PSEN1 variants in a consecutive series of clinically suspicious early-onset familial AD (EOFAD) Korean patients and their clinical characteristics and imaging findings. From January 2007 to...
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