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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...

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Detalles Bibliográficos
Autores principales: Nolen, Leisha D., Boyle, Shelagh, Ansari, Morad, Pritchard, Emily, Bickmore, Wendy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
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