Cargando…
Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer’s Disease
Presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) mutations are responsible for autosomal dominant early-onset Alzheimer’s disease (AD-EOAD). To analyze the phenotypes and genotypes of EOAD patients, we performed comprehensive clinical assessments as well as mutation sc...
Autores principales: | Li, Yu-Sheng, Yang, Zhi-Hua, Zhang, Yao, Yang, Jing, Shang, Dan-Dan, Zhang, Shu-Yu, Wu, Jun, Ji, Yan, Zhao, Lu, Shi, Chang-He, Xu, Yu-Ming |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
JKL International LLC
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6675531/ https://www.ncbi.nlm.nih.gov/pubmed/31440394 http://dx.doi.org/10.14336/AD.2018.1109 |
Ejemplares similares
-
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease
por: Giau, Vo Van, et al.
Publicado: (2019) -
Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy
por: Li, Xu-Ying, et al.
Publicado: (2021) -
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer’s Disease
por: Yang, YoungSoon, et al.
Publicado: (2022) -
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
por: Lanoiselée, Hélène-Marie, et al.
Publicado: (2017) -
Identification of PSEN1 and APP Gene Mutations in Korean Patients with Early-Onset Alzheimer's Disease
por: Park, Hyun-Kyung, et al.
Publicado: (2008)