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

We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) 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 showed diffuse atrophy...

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Detalles Bibliográficos
Autores principales: Bagyinszky, Eva, Lee, Hyon, Pyun, Jung Min, Suh, Jeewon, Kang, Min Ju, Vo, Van Giau, An, Seong Soo A., Park, Kee Hyung, Kim, SangYun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7345614/
https://www.ncbi.nlm.nih.gov/pubmed/32545847
http://dx.doi.org/10.3390/diagnostics10060405

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7345614/
https://www.ncbi.nlm.nih.gov/pubmed/32545847
http://dx.doi.org/10.3390/diagnostics10060405

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