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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:EMBO Mol Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2015
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4403044/
https://ncbi.nlm.nih.gov/pubmed/25693964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201404576
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados