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NIPBL(+/−) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states
Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identified as a critical protein responsible for the orc...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773608/ https://www.ncbi.nlm.nih.gov/pubmed/29348408 http://dx.doi.org/10.1038/s41598-018-19173-9 |