A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function

Loss of function of the FMR1 gene leads to fragile X syndrome (FXS), the most common form of intellectual disability. The loss of FMR1 function is usually caused by epigenetic silencing of the FMR1 promoter leading to expansion and subsequent methylation of a CGG repeat in the 5′ untranslated region...

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Detalles Bibliográficos
Autores principales: Okray, Zeynep, de Esch, Celine EF, Van Esch, Hilde, Devriendt, Koen, Claeys, Annelies, Yan, Jiekun, Verbeeck, Jelle, Froyen, Guy, Willemsen, Rob, de Vrij, Femke MS, Hassan, Bassem A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403044/
https://www.ncbi.nlm.nih.gov/pubmed/25693964
http://dx.doi.org/10.15252/emmm.201404576

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403044/
https://www.ncbi.nlm.nih.gov/pubmed/25693964
http://dx.doi.org/10.15252/emmm.201404576

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