A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Family

Familial Alzheimer’s disease (FAD) present as a positive family history of cognitive decline, with early onset and an autosomal dominant inheritance pattern. FAD is mainly caused by the mutations in the genes encoding for amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2...

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Detalles Bibliográficos
Autores principales: Jiang, Bin, Bi, Min, Li, Jun, Liu, Qi, Xiao, Nai-An, Fang, Jie, Shi, Man-Yi, Yu, Zi-Wen, Ma, Qi-Lin, Tong, Sui-Jun, Zheng, Kun-Mu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7366492/
https://www.ncbi.nlm.nih.gov/pubmed/32754199
http://dx.doi.org/10.3389/fgene.2020.00713

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7366492/
https://www.ncbi.nlm.nih.gov/pubmed/32754199
http://dx.doi.org/10.3389/fgene.2020.00713

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