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Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy

OBJECTIVE: Trinucleotide GGC repeat expansion in the 5’UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clinical and pathological similarities with multiple system atrop...

詳細記述

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書誌詳細
出版年:Ann Clin Transl Neurol
主要な著者: Fang, Pu, Yu, Yanyan, Yao, Sheng, Chen, Shuyun, Zhu, Min, Chen, Yunqing, Zou, Keji, Wang, Lulu, Wang, Huan, Xin, Ling, Hong, Tao, Hong, Daojun
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7187708/
https://ncbi.nlm.nih.gov/pubmed/32250060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51021
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