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CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons

BACKGROUND: Fragile X syndrome (FXS), a common cause of intellectual disability and autism, results from the expansion of a CGG-repeat tract in the 5′ untranslated region of the FMR1 gene to >200 repeats. Such expanded alleles, known as full mutation (FM) alleles, are epigenetically silenced in d...

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Detalles Bibliográficos
Autores principales: Zhou, Yifan, Kumari, Daman, Sciascia, Nicholas, Usdin, Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053128/
https://www.ncbi.nlm.nih.gov/pubmed/27713816
http://dx.doi.org/10.1186/s13229-016-0105-9