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l-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome

Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development as well as mental retardation. The developmental phenotypes of CdLS and other cohesinopathies suggest that mutat...

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Détails bibliographiques
Publié dans:Hum Mol Genet
Auteurs principaux: Xu, Baoshan, Sowa, Nenja, Cardenas, Maria E., Gerton, Jennifer L.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4351377/
https://ncbi.nlm.nih.gov/pubmed/25378554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu565
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