Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known about its paralog UBE3B. By using exome and capilla...

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Auteurs principaux: Basel-Vanagaite, Lina, Dallapiccola, Bruno, Ramirez-Solis, Ramiro, Segref, Alexandra, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miró, Xavier, White, Jacqueline K., Désir, Julie, Abramowicz, Marc, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine, Ingham, Neil J., Altmüller, Janine, Nürnberg, Gudrun, Frommolt, Peter, Abdelhak, Sonia, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nürnberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten, Kubisch, Christian, Adams, David J., Borck, Guntram
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516591/
https://ncbi.nlm.nih.gov/pubmed/23200864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.011
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