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Differential increases of specific FMR1 mRNA isoforms in premutation carriers
BACKGROUND: Over 40% of males and ~16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop Fragile X associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder while, about 20% of female carriers will develop Fragile X-associated Primary Ovaria...
Tallennettuna:
| Julkaisussa: | J Med Genet |
|---|---|
| Päätekijät: | , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4394606/ https://ncbi.nlm.nih.gov/pubmed/25358671 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2014-102593 |
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