Article
Genetic variability of the retromer cargo recognition complex in parkinsonism.
Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2015
Gustavsson Emil K, Guella Ilaria, Trinh Joanne, Szu-Tu Chelsea, Rajput Alex, Rajput Ali H, Steele John C, McKeown Martin, Jeon Beom S, Aasly Jan O, Farrer Matthew J
Abstract excerpt
BACKGROUND: A pathogenic mutation (VPS35 p.D620N) within the retromer complex has been shown to segregate with late-onset Parkinson's disease (PD). Several studies have subsequently detected the mutation in patients with PD and not in controls. METHODS: Mutation screening of the coding regions of...
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