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

BACKGROUND: Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N‐terminus part of GBA are less commonly found in association with PD than those in the C‐terminus. Phenotypic characterization of GBA‐related PD has been c...

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書誌詳細
出版年:Mov Disord Clin Pract
主要な著者: Hertz, Ellen, Thörnqvist, Måns, Holmberg, Björn, Machaczka, Maciej, Sidransky, Ellen, Svenningsson, Per
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley & Sons, Inc. 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6417758/
https://ncbi.nlm.nih.gov/pubmed/30949558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12743
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