The Development of C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disorders

The Development of C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disorders
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C9orf72 相关肌萎缩侧索硬化症和额颞叶痴呆疾病的发展

DOI:
10.3389/fgene.2020.562758
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发表时间:
2020-09
期刊:
Front Genet
影响因子:
--
通讯作者:
Lu Shen
Lu Shen
中科院分区:
其他
文献类型:
--
作者:
Qijie Yang;Bin Jiao;Lu Shen

文献摘要

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C9orf72基因非编码区GGGGCC六核苷酸重复扩增是肌萎缩性侧索硬化症(ALS)和额颞叶痴呆(FTD)最常见的遗传原因。主要有三种发病机制:功能丧失
The expanded GGGGCC hexanucleotide repeat in the non-coding region of the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). There are three main disease mechanisms: loss of function of
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