Double-Blind Therapeutic Trial in Angelman Syndrome Using Betaine and Folic Acid

Angelman syndrome (AS) is caused by reduced or absent expression of the maternally inherited ubiquitin protein ligase 3A gene (UBE3A), which maps to chromosome 15q11–q13. UBE3A is subject to genomic imprinting in neurons in most regions of the brain. Expression of UBE3A from the maternal chromosome...

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Auteurs principaux: Peters, Sarika U., Bird, Lynne M., Kimonis, Virginia, Glaze, Daniel G., Shinawi, Lina M., Bichell, Terry Jo, Barbieri-Welge, Rene, Nespeca, Mark, Anselm, Irina, Waisbren, Susan, Sanborn, Erica, Sun, Qin, O’Brien, William E., Beaudet, Arthur L., Bacino, Carlos A.
Format: Artigo
Langue:Inglês
Publié: 2010
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3172130/
https://ncbi.nlm.nih.gov/pubmed/20635355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33509
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