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Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene.

著者 Thaler A , Bregman N , Gurevich T , Shiner T , Dror Y , Zmira O , Gan-Or Z , Bar-Shira A , Gana-Weisz M , Orr-Urtreger A , Giladi N , Mirelman A
Parkinsonism Relat Disord.2018 May 17 ; ():.
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Mutations in the glucocerebrosidase (GBA) gene are divided into mild and severe (mGBA, sGBA) based on their contribution to the phenotype of Gaucher disease (GD) among homozygotes. We conducted a longitudinal analysis of Parkinson's disease (PD) patients carrying mutations in the GBA gene to better characterize genotype-phenotype correlations.
PMID: 29784561 [PubMed - as supplied by publisher]
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