Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

The human FMR1 gene contains a CGG repeat in its 5’ untranslated region. The repeat length in the normal population is polymorphic (5-55 CGG repeats). Lengths beyond 200 CGGs (full mutation) result in the absence of the FMR1 gene product, FMRP, through abnormal methylation and gene silencing. This c...

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Detalhes bibliográficos
Main Authors: Brouwer, JR, Mientjes, EJ, Bakker, CE, Nieuwenhuizen, IM, Severijnen, LA, Van der Linde, H, Nelson, DL, Oostra, BA, Willemsen, R
Formato: Artigo
Idioma:Inglês
Publicado em: 2006
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852528/
https://ncbi.nlm.nih.gov/pubmed/17150213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yexcr.2006.10.002
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