A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease

BACKGROUND: Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies reported several novel PSEN1 mutations among Asian. We describe a male with EOAD had a pathogenic PSEN1 mutation. CASE PRESENTATION: A 53-year-old male presented with...

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Detalles Bibliográficos
Autores principales: Van Giau, Vo, Pyun, Jung-Min, Suh, Jeewon, Bagyinszky, Eva, An, Seong Soo A., Kim, Sang Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685246/
https://www.ncbi.nlm.nih.gov/pubmed/31391004
http://dx.doi.org/10.1186/s12883-019-1419-y

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