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[The clinical features of Parkinson's disease in patients with mutations and polymorphic variants of GBA gene].

著者 Senkevich KA , Miliukhina IV , Beletskaia MV , Gracheva EV , Kudrevatykh AV , Nikolaev MA , Emelyanov AK , Kopytova AE , Timofeeva AA , Yakimovskii AF , Pchelina SN この記事をPubMed上で見るPubMedで表示
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Mutations in the glucocerebrosidase gene (GBA) increase the risk of Parkinson's disease (PD) by 6-10 times in all populations and are associated with the early-onset of PD, development of cognitive impairment and presence of psychotic disorders. At the same time, polymorphic variants associated with the twofold increase in the risk of PD were also described in the GBA gene.
PMID: 29171494 [PubMed - in process]
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