Article

BIOLOGICAL SCIENCES: Genetics

2018-08-31

Abstract excerpt

<h4>ABSTRACT</h4> Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from the maternal allele of UBE3A , a gene encoding an E3 ubiquitin ligase. UBE3A is only expressed from the maternally-inherited allele in mature human neurons due to tissue-specific genomic imprinting. Imprinted expression of UBE3A is restricted to neurons by expression of UBE3A antisense transcri...

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Literature Corpus work: e8aaf3b7-9e93-5b1d-b059-52942433aa90
DOI: 10.1101/404061

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