Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer’s Disease in Korea

Amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are associated with autosomal-dominant early-onset Alzheimer’s disease (AD). Most mutations have been identified in the PSEN1 gene. We discovered a PSEN1 mutation (Tyr389His) in a Korean patient with early-onset AD who p...

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Detalles Bibliográficos
Autores principales: Shim, Kyu Hwan, Kang, Sangjoon, An, Seong Soo A., Kang, Min Ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9781446/
https://www.ncbi.nlm.nih.gov/pubmed/36555832
http://dx.doi.org/10.3390/ijms232416192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9781446/
https://www.ncbi.nlm.nih.gov/pubmed/36555832
http://dx.doi.org/10.3390/ijms232416192

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