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Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction

BACKGROUND: PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. CASE PRESENTATION: PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia...

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Detalles Bibliográficos
Autores principales:	Youn, Young Chul, Bagyinszky, Eva, Kim, HyeRyoun, Choi, Byung-Ok, An, Seong Soo, Kim, SangYun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036836/ https://www.ncbi.nlm.nih.gov/pubmed/24885952 http://dx.doi.org/10.1186/1471-2377-14-105

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