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Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF
Cornelia de Lange syndrome (CdLS) is a developmental disorder caused by mutations in NIPBL, a protein which has functionally been associated with the cohesin complex. Mutations in core cohesin complex components have also been reported in individuals with CdLS-like phenotypes. In addition to its rol...
Autores principales: | Nolen, Leisha D., Boyle, Shelagh, Ansari, Morad, Pritchard, Emily, Bickmore, Wendy A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781641/ https://www.ncbi.nlm.nih.gov/pubmed/23760082 http://dx.doi.org/10.1093/hmg/ddt265 |
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