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Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia
Friedreich's ataxia (FRDA) is an autosomal recessive neurological disease caused by expansions of guanine-adenine-adenine (GAA) repeats in intron 1 of the frataxin (FXN) gene. The expansion results in significantly decreased frataxin expression. We report that human FRDA cells can be corrected...
में बचाया:
| में प्रकाशित: | Mol Ther |
|---|---|
| मुख्य लेखकों: | , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Nature Publishing Group
2015
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4817761/ https://ncbi.nlm.nih.gov/pubmed/25758173 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2015.41 |
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