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Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast

Cornelia de Lange Syndrome (CdLS) is a developmental disorder characterized by limb truncations, craniofacial abnormalities, and cognitive delays. CdLS is caused mainly by mutations in genes encoding subunits or regulators of the cohesin complex. Cohesin plays 2 distinct roles in chromosome dynamics...

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Detalles Bibliográficos
Autores principales:	Chen, Jingrong, Floyd, Erin N, Dawson, Dean S, Rankin, Susannah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Genetic Models of Rare Diseases
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550314/ https://www.ncbi.nlm.nih.gov/pubmed/37650609 http://dx.doi.org/10.1093/genetics/iyad159

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