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Article

A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients.

Neuroscience letters - 1 May 2018

Jin Hong, Chen Jing, Li Kai, Zhang Jin-Ru, Gu Chen-Chen, Mao Cheng-Jie, Yang Ya-Ping, Wang Feng, Liu Chun-Feng

Abstract excerpt

OBJECTIVES: Pathogenic mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson's disease (PD), of which L444P and N370S are the most frequently observed in patients with PD. The aim of this study was to systematically explore variations in the coding regions of GBA in Han Chinese patients with PD, as well as to expand the GBA mutation spectrum. MATERIAL AND METHODS: A total of 213 Han Chinese...

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Identifiers

PMID: 29530815
DOI: 10.1016/j.neulet.2018.03.017

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