Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations...

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Autors principals: Calì, Francesco, Ragalmuto, Alda, Chiavetta, Valeria, Calabrese, Giuseppe, Fichera, Marco, Vinci, Mirella, Ruggeri, Giuseppa, Schinocca, Pietro, Sturnio, Maurizio, Romano, Salvatore, Romano, Valentino, Elia, Maurizio
Format: Artigo
Idioma:Inglês
Publicat: Korean Society for Biochemistry and Molecular Biology 2010
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3015158/
https://ncbi.nlm.nih.gov/pubmed/21072004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3858/emm.2010.42.12.087
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