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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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Pubblicato in:Dev Med Child Neurol
Autori principali: Elgersma, Ype, Sonzogni, Monica
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2021
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Accesso online: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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