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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351377/ https://www.ncbi.nlm.nih.gov/pubmed/25378554 http://dx.doi.org/10.1093/hmg/ddu565 |