Article
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Human molecular genetics - 1 Jan 2011
Lesage Suzanne, Anheim Mathieu, Condroyer Christel, Pollak Pierre, Durif Franck, Dupuits Céline, Viallet François, Lohmann Ebba, Corvol Jean-Christophe, Honoré Aurélie, Rivaud Sophie, Vidailhet Marie, Dürr Alexandra, Brice Alexis
Abstract excerpt
Pathogenic variants in the glucocerebrosidase gene (GBA) encoding the enzyme deficient in Gaucher's disease (GD) are associated with Parkinson's disease (PD). To investigate the sequence variants, their association with PD and the related phenotypes in a large cohort of European, mostly French, patients and controls, we sequenced all exons of GBA in 786 PD patients from 525 unrelated multiplex families, 605...
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