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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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| Publicat a: | BMC Neurol |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6685246/ https://ncbi.nlm.nih.gov/pubmed/31391004 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-019-1419-y |
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