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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...
שמור ב:
| הוצא לאור ב: | Brain Disord Ther |
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| Main Authors: | , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2014
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4245015/ https://ncbi.nlm.nih.gov/pubmed/25436181 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4172/2168-975X.1000119 |
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