Article
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease.
European journal of medical genetics - 1 Jan 2019
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
Abstract excerpt
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 whole gene, which may leave carriers of PD-associated GBA variants undiscovered. METHODS: GBA was fully sequenced...
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