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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...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2009
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Materias: | |
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 |