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Greater risk of parkinsonism associated with non-N370S GBA1 mutations

Mutations in β-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozy...

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書誌詳細
主要な著者: Barrett, M. J., Giraldo, P., Capablo, J. L., Alfonso, P., Irun, P., Garcia-Rodriguez, B., Pocovi, M., Pastores, G. M.
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4102607/
https://ncbi.nlm.nih.gov/pubmed/22968580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9527-5
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