Exploring cell reprogramming techniques for Angelman Syndrome disease modelling

Angelman Syndrome (AS) is an imprinted neurodevelopmental disease with no cure caused by the lack of UBE3A expression, which, in neurons, is exclusively maternally expressed. The paternal UBE3A allele is silenced by the UBE3A antisense transcript (UBE3A-ATS), which is only expressed from the paterna...

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Detalhes bibliográficos
Autor principal: Joaquim, Mariana Isabel Lopes (author)
Formato: masterThesis
Idioma:eng
Publicado em: 2018
Assuntos:
Texto completo:http://hdl.handle.net/10362/42365
País:Portugal
Oai:oai:run.unl.pt:10362/42365