Article
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
Annals of neurology - 1 May 2002
Kann Martin, Jacobs Helfried, Mohrmann Kathrin, Schumacher Kirsten, Hedrich Katja, Garrels Jennifer, Wiegers Karin, Schwinger Eberhard, Pramstaller Peter P, Breakefield Xandra O, Ozelius Laurie J, Vieregge Peter, Klein Christine
Abstract excerpt
Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of...
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