Article
Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease.
European journal of neurology - 1 Dec 2010
Abdalla-Carvalho C B, Santos-Rebouças C B, Guimarães B C, Campos M, Pereira J S, de Rosso A L Zuma, Nicaretta D H, Marinho e Silva M, dos Santos Mendonça J, Pimentel M M G
Abstract excerpt
BACKGROUND AND PURPOSE: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson's disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains. METHODS: Exons 29-31 and 38-44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian. RESULTS: We identified four polymorphisms, a novel silent variant p.R1398R and...
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