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Gene symbol: UBE3A. Disease: Angelman syndrome.
Human genetics, 2008O Thomas, Mueller, Adam, Coovadia
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Gene symbol: UBE3A. Disease: Angelman syndrome.
Human genetics, 2003F A, Monzon, J, Kant, E, Sanders, C, Bay
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Unsilencing dormant Ube3a—hope for Angelman syndrome?
Nature Reviews Neurology, 2012openaire +1 more source
The role of Ube3A in presynaptic differentiation
The decrease in UBE3A gene expression levels results in Angelman Syndrome, a rare neurodevelopmental disease characterized by cognitive and motor impairments, epilepsy and EEG abnormalities, as well as lack of speech and sleep difficulties. Various genetic etiologies can disrupt proper UBE3A expression, including deletions in the 15q11-q13 region ...openaire +1 more source