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Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer’s Disease
Presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) mutations are responsible for autosomal dominant early-onset Alzheimer’s disease (AD-EOAD). To analyze the phenotypes and genotypes of EOAD patients, we performed comprehensive clinical assessments as well as mutation sc...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
JKL International LLC
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6675531/ https://www.ncbi.nlm.nih.gov/pubmed/31440394 http://dx.doi.org/10.14336/AD.2018.1109 |