Pathogenic <i>PSEN1</i> Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease

Pathogenic <i>PSEN1</i> Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease

We report a probable pathogenic Thr119Ile mutation in presenilin-1 (<i>PSEN1</i>) in two unrelated Korean patients, diagnosed with early onset Alzheimer’s disease (EOAD). The first patient presented with memory decline when she was 64 years old. Magnetic resonance imaging (MRI) scans sho...

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Main Authors: Eva Bagyinszky, Hyon Lee, Jung Min Pyun, Jeewon Suh, Min Ju Kang, Van Giau Vo, Seong Soo A. An, Kee Hyung Park, SangYun Kim
格式: 文件
语言:English
出版: MDPI AG 2020-06-01
丛编:Diagnostics
主题:
Alzheimer’s disease
Thr119Ile mutation
presenilin-1
next generation sequencing
在线阅读:https://www.mdpi.com/2075-4418/10/6/405

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https://www.mdpi.com/2075-4418/10/6/405

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