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FMR1 premutation and full mutation molecular mechanisms related to autism
Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5′ un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-binding protein that regulates the translation of a number of...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer US
2011
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261276/ https://www.ncbi.nlm.nih.gov/pubmed/21617890 http://dx.doi.org/10.1007/s11689-011-9084-5 |