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