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Altered expression of the FMR1 splicing variants landscape in premutation carriers
FMR1 premutation carriers (55–200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. Approximately 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a num...
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| Veröffentlicht in: | Biochim Biophys Acta |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5933929/ https://ncbi.nlm.nih.gov/pubmed/28888471 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbagrm.2017.08.007 |
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