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Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells With Distinct Mutations in SMC1A and SMC3 Genes

Mutations in cohesin genes have been identified in Cornelia de Lange syndrome (CdLS), but its etiopathogenetic mechanisms are still poorly understood. To define biochemical pathways that are affected in CdLS we analyzed the proteomic profile of CdLS cell lines carrying mutations in the core cohesin...

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Detalhes bibliográficos
Main Authors: Gimigliano, Anna, Mannini, Linda, Bianchi, Laura, Puglia, Michele, Deardorff, Matthew A., Menga, Stefania, Krantz, Ian D, Musio, Antonio, Bini, Luca
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3519430/
https://ncbi.nlm.nih.gov/pubmed/23106691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/pr300760p
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