Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson’s disease

OBJECTIVES: To investigate disease risk mechanisms of early-onset Parkinson’s disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD. METHODS: In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigate sequence variants in nine...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Butcher, Nancy J., Merico, Daniele, Zarrei, Mehdi, Ogura, Lucas, Marshall, Christian R., Chow, Eva W. C., Lang, Anthony E., Scherer, Stephen W., Bassett, Anne S.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5400231/
https://ncbi.nlm.nih.gov/pubmed/28430790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0173944
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