Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease

BACKGROUND: Variants in GBA are the most common genetic risk factor for Parkinson’s disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population. However, most studies on GBA in AJ genotype only seven selected Gaucher-associated pathogenic variants rather than sequencing the wh...

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發表在:Eur J Med Genet
Main Authors: Ruskey, Jennifer A., Greenbaum, Lior, Roncière, Léanne, Alam, Armaghan, Spiegelman, Dan, Liong, Christopher, Levy, Oren A., Waters, Cheryl, Fahn, Stanley, Marder, Karen S., Chung, Wendy, Yahalom, Gilad, Israeli-Korn, Simon, Livneh, Vered, Fay-Karmon, Tsvia, Alcalay, Roy N., Hassin-Baer, Sharon, Gan-Or, Ziv
格式: Artigo
語言:Inglês
出版: 2018
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6261782/
https://ncbi.nlm.nih.gov/pubmed/29842932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2018.05.005
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