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PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
An in depth study of PSEN1 mutation p.Thr116Ile (c.335C>T) is presented from two Korean families with autosomal dominant inheritance. Clinical manifestation of our patients included memory loss, attention deficits, visuospatial dysfunction, agnosia, aphasia, apraxia, and personality changes, whic...
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| Publicado en: | Int J Mol Sci |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
MDPI
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6164060/ https://ncbi.nlm.nih.gov/pubmed/30200536 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19092604 |
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