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The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal.

著者 Berge-Seidl V , Pihlstrøm L , Maple-Grødem J , Forsgren L , Linder J , Larsen JP , Tysnes OB , Toft M
Neurosci Lett.2017 Aug 19 ; ():.
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Coding variants in the GBA gene have been identified as the numerically most important genetic risk factors for Parkinson's disease (PD). In addition, genome-wide association studies (GWAS) have identified associations with PD in the SYT11-GBA region on chromosome 1q22, but the relationship to GBA coding variants have remained unclear. The aim of this study was to sequence the complete GBA gene in a clinical cohort and to investigate whether coding variants within the GBA gene may be driving reported association signals.
PMID: 28830825 [PubMed - as supplied by publisher]
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