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Angelman Syndrome: Insights into Genomic Imprinting and Neurodevelopmental Phenotypes

Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent adva...

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Detaylı Bibliyografya
Asıl Yazarlar: Mabb, Angela M., Judson, Matthew C., Zylka, Mark J., Philpot, Benjamin D.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2011
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3116240/
https://ncbi.nlm.nih.gov/pubmed/21592595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tins.2011.04.001
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