Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl (+/−) Mouse, a Model of Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL gene. In animals and fungi, orthologs of NIPBL regulate cohesin, a complex of proteins that is essential for chromosome cohesion and is also impl...

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Detalles Bibliográficos
Autores principales: Kawauchi, Shimako, Calof, Anne L., Santos, Rosaysela, Lopez-Burks, Martha E., Young, Clint M., Hoang, Michelle P., Chua, Abigail, Lao, Taotao, Lechner, Mark S., Daniel, Jeremy A., Nussenzweig, Andre, Kitzes, Leonard, Yokomori, Kyoko, Hallgrimsson, Benedikt, Lander, Arthur D.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2730539/
https://www.ncbi.nlm.nih.gov/pubmed/19763162
http://dx.doi.org/10.1371/journal.pgen.1000650

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