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Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier
Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficien...
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| Wydane w: | Colombia Médica |
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| Główni autorzy: | , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Universidad del Valle
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | https://www.redalyc.org/articulo.oa?id=28353727007 https://www.redalyc.org/journal/283/28353727007/ https://www.redalyc.org/journal/283/28353727007/html/ https://www.redalyc.org/journal/283/28353727007/28353727007.epub https://www.redalyc.org/journal/283/28353727007/movil |
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