Genomic investigation of α-Synuclein multiplication and parkinsonism

OBJECTIVE: Copy number variation is a common polymorphic phenomenon within the human genome. While the majority of these events are non-deleterious they can also be highly pathogenic. Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chr...

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Hauptverfasser: Ross, Owen A., Braithwaite, Adam T., Skipper, Lisa M., Kachergus, Jennifer, Hulihan, Mary M., Middleton, Frank A., Nishioka, Kenya, Fuchs, Julia, Gasser, Thomas, Maraganore, Demetrius M., Adler, Charles H., Larvor, Lydie, Chartier-Harlin, Marie-Christine, Nilsson, Christer, Langston, J. William, Gwinn, Katrina, Hattori, Nobutaka, Farrer, Matthew J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2008
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3850281/
https://ncbi.nlm.nih.gov/pubmed/18571778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.21380
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