Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation

Fragile X syndrome (FXS) is caused by CGG repeat expansion that leads to FMR1 silencing. Women with a premutation allele are at risk of having a full mutation child with FXS. To investigate the mechanism of repeat expansion, we examined the relationship between a single-nucleotide polymorphism (SNP)...

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Autores principales: Gerhardt, Jeannine, Zaninovic, Nikica, Zhan, Qiansheng, Madireddy, Advaitha, Nolin, Sarah L., Ersalesi, Nicole, Yan, Zi, Rosenwaks, Zev, Schildkraut, Carl L.
Formato: Artigo
Lenguaje:Inglês
Publicado: The Rockefeller University Press 2014
Materias:
Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4151148/
https://ncbi.nlm.nih.gov/pubmed/25179629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1083/jcb.201404157
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