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Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers
Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability and it is characterized by a CGG expansion of more than 200 repeats in the FMR1 gene, leading to methylation of the promoter and gene silencing. The fragile X premutation, characterized by a 55 to 200 CGG repeat...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245015/ https://www.ncbi.nlm.nih.gov/pubmed/25436181 http://dx.doi.org/10.4172/2168-975X.1000119 |