Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
Journal of Medical Genetics2019Vol. 56(11), pp. 758–764
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Jianwen Deng, Muliang Gu, Yu Miao, Sheng Yao, Min Zhu, Fang Pu, Xuefan Yu, Pidong Li, Yanan Su, Jian Huang, Jun Zhang, Jiaxi Yu, Fan Li, Jing Bai, Wei Sun, Yining Huang, Yun Yuan, Daojun Hong, Zhaoxia Wang
Abstract
Our findings provided evidence that confirmed the GGC repeated expansion in the 5'UTR of the NOTCH2NLC gene is associated with the pathogenesis of NIID. Additionally, the GGC expansion was not only responsible for adult-onset patients, but also responsible for juvenile-onset patients.
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