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...

Descripción completa

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

Internet

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

Ejemplares similares