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

著者 Jin H , Chen J , Li K , Zhang JR , Gu CC , Mao CJ , Yang YP , Wang F , Liu CF
Neurosci Lett.2018 Mar 09 ; ():.
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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.
PMID: 29530815 [PubMed - as supplied by publisher]
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