Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance

Alzheimer’s disease (AD) is the most common form of neurodegenerative dementia. In this study, whole genome sequencing identifies one rare and likely pathogenic mutation in the presenilin 1 (PSEN1) gene (c.356C > T, p.T119I) associated with a frontal variant of AD. Affected individuals in the kin...

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Detalles Bibliográficos
Autores principales: Zhang, Shouzi, Li, Xiang, Zhang, Li, Meng, Xiangyan, Ma, Li, Zhang, Guangze, Wu, Haiyan, Liang, Ling, Cao, Meng, Mei, Fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Psychiatry
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240292/
https://www.ncbi.nlm.nih.gov/pubmed/32477171
http://dx.doi.org/10.3389/fpsyt.2020.00347

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