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Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.

Movement disorders : official journal of the Movement Disorder Society - 15 Jun 2010

Sun Qi-Ying, Guo Ji-Feng, Wang Lei, Yu Ren-He, Zuo Xing, Yao Ling-Yan, Pan Qian, Xia Kun, Tang Bei-Sha

Abstract excerpt

An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA...

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Identifiers

PMID: 20131388
DOI: 10.1002/mds.23009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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