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Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletion

Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two neurodevelopmental disorders most often caused by deletions of the same region of paternally inherited and maternally inherited human chromosome 15q, respectively. AS is a single gene disorder, caused by the loss of function of the ubiqu...

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Autori principali: Martins-Taylor, Kristen, Hsiao, Jack S., Chen, Pin-Fang, Glatt-Deeley, Heather, De Smith, Adam J., Blakemore, Alexandra I.F., Lalande, Marc, Chamberlain, Stormy J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976333/
https://ncbi.nlm.nih.gov/pubmed/24363065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt628
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