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Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson's disease by whole-exome sequencing.

Neuroscience letters - 10 Aug 2020

Chen Hui, Jin Yu-Hua, Xue Yan-Yan, Chen Yu-Lan, Chen Yi-Jun, Tao Qing-Qing, Wu Zhi-Ying

Abstract excerpt

Genetic factors are considered to play a critical role in patients with early-onset Parkinson's disease (EOPD). The genetic spectrum of EOPD patients has been extensively investigated in Caucasian populations but rarely in the Chinese population. In this study, a total of 21 unrelated Chinese EOPD patients were enrolled. Multiplex ligation-dependent probe amplification assay and whole-exome sequencing were...

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PMID: 32446772
DOI: 10.1016/j.neulet.2020.135075

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