Genomic imprinting does not reduce the dosage of UBE3A in neurons

BACKGROUND: The ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types. Both loss-of-function and gain-of-function mutations affecting the dosage of UBE3A are associated with several neurodevelopmen...

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Detalles Bibliográficos
Autores principales: Hillman, Paul R., Christian, Sarah G. B., Doan, Ryan, Cohen, Noah D., Konganti, Kranti, Douglas, Kory, Wang, Xu, Samollow, Paul B., Dindot, Scott V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433054/
https://www.ncbi.nlm.nih.gov/pubmed/28515788
http://dx.doi.org/10.1186/s13072-017-0134-4

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