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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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Detalles Bibliográficos
Autores principales:	Bagyinszky, Eva, Lee, Hye-Mi, Van Giau, Vo, Koh, Seong-Beom, Jeong, Jee Hyang, An, Seong Soo A., Kim, SangYun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6164060/ https://www.ncbi.nlm.nih.gov/pubmed/30200536 http://dx.doi.org/10.3390/ijms19092604

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