Identification of Alzheimer’s disease–associated rare coding variants in the ECE2 gene

Accumulation of amyloid β protein (Aβ) due to increased generation and/or impaired degradation plays an important role in Alzheimer’s disease (AD) pathogenesis. In this report, we describe the identification of rare coding mutations in the endothelin-converting enzyme 2 (ECE2) gene in 1 late-onset A...

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Vydáno v:JCI Insight
Hlavní autoři: Liao, Xinxin, Cai, Fang, Sun, Zhanfang, Zhang, Yun, Wang, Juelu, Jiao, Bin, Guo, Jifeng, Li, Jinchen, Liu, Xixi, Guo, Lina, Zhou, Yafang, Wang, Junling, Yan, Xinxiang, Jiang, Hong, Xia, Kun, Li, Jiada, Tang, Beisha, Shen, Lu, Song, Weihong
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2020
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7101146/
https://ncbi.nlm.nih.gov/pubmed/32102983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.135119
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