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Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Clinical Investigation
2012
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3533539/ https://ncbi.nlm.nih.gov/pubmed/23202739 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI63141 |
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