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First Clinicogenetic Description of Parkinson's Disease Related to Mutation S107L.

著者 Hertz E , Thörnqvist M , Holmberg B , Machaczka M , Sidransky E , Svenningsson P
Mov Disord Clin Pract.2019 Mar ; 6(3):254-258.
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Mutations in the glucocerebrosidase gene () are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N-terminus part of are less commonly found in association with PD than those in the C-terminus. Phenotypic characterization of -related PD has been challenging, in part attributed to differential impact of distinct mutations.
PMID: 30949558 [PubMed]
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