Article
A heterozygous effect for PINK1 mutations in Parkinson's disease?
Annals of neurology - 1 Oct 2006
Abou-Sleiman Patrick M, Muqit Miratul M K, McDonald Neil Q, Yang Yan Xiang, Gandhi Sonia, Healy Daniel G, Harvey Kirsten, Harvey Robert J, Deas Emma, Bhatia Kailash, Quinn Niall, Lees Andrew, Latchman David S, Wood Nicholas W
Abstract excerpt
OBJECTIVE: To investigate the significance of PINK1 mutations in sporadic Parkinson's disease (PD). METHODS: We determined the frequency of PINK1 mutations by direct sequencing in a large series of PD patients with apparently sporadic disease (n = 768). RESULTS: Twelve heterozygous mutations were identified, nine in PD patients and three in control subjects. INTERPRETATION: Given the difficulty in interpreting...
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