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Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cel...
Autores principales: | Fink, James J., Robinson, Tiwanna M., Germain, Noelle D., Sirois, Carissa L., Bolduc, Kaitlyn A., Ward, Amanda J., Rigo, Frank, Chamberlain, Stormy J., Levine, Eric S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413969/ https://www.ncbi.nlm.nih.gov/pubmed/28436452 http://dx.doi.org/10.1038/ncomms15038 |
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