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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...

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Detalles Bibliográficos
Publicado en:Dev Med Child Neurol
Main Authors: Elgersma, Ype, Sonzogni, Monica
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2021
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Acceso en liña: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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