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Gaucher Disease
New findings reported from University of Tokyo describe advances in Gaucher disease
June 18th, 2009
"Increased frequency of pathogenic variants in GBA, the causative gene for Gaucher disease, has been suggested to be associated with Parkinson disease (PD). To conduct comprehensive resequencing of GBA to identify all sequence variants and to investigate the association of these variants with PD. Case-control study," scientists in Hongo, Japan report. "Multicenter university-based study. Five hundred thirty-four patients with PD, 34 families in which multiple patients with PD are present, and 544 control subjects. Disease status and GBA variations. Comprehensive resequencing of GBA in 534 patients with PD and 544 controls revealed 27 sequence variants: 11 pathogenic...
Source: Blood Weekly (2009-06-18)
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