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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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Autors principals: Gimigliano, Anna, Mannini, Linda, Bianchi, Laura, Puglia, Michele, Deardorff, Matthew A., Menga, Stefania, Krantz, Ian D, Musio, Antonio, Bini, Luca
Format: Artigo
Idioma:Inglês
Publicat: 2012
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Accés en línia: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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