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Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, ‘puppet-like’ ataxic gait with jerky arm movements, seizures, EEG abnormalities, hyperactivity and bouts of inappropriate laughter. Individuals with AS fail to inherit a normal active maternal copy of the g...

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Detalles Bibliográficos
Autores principales: Landers, Miguel, Calciano, Margaret A., Colosi, Dan, Glatt-Deeley, Heather, Wagstaff, Joseph, Lalande, Marc
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1178004/
https://www.ncbi.nlm.nih.gov/pubmed/16027444
http://dx.doi.org/10.1093/nar/gki705