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UBE3A reinstatement as a disease‐modifying therapy for Angelman syndrome

Half a century ago, Harry Angelman reported three patients with overlapping clinical features, now well known as Angelman syndrome. Angelman syndrome is caused by mutations affecting the maternally inherited UBE3A gene, which encodes an E3‐ubiquitin ligase that is critical for typical postnatal brai...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Dev Med Child Neurol
Päätekijät: Elgersma, Ype, Sonzogni, Monica
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2021
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8248324/
https://ncbi.nlm.nih.gov/pubmed/33543479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dmcn.14831
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