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Friedreich Ataxia: current status and future prospects
Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is significantly reduced. Frataxin is a mitochondrial protein. Its...
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| Publicado no: | Cerebellum Ataxias |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5383992/ https://ncbi.nlm.nih.gov/pubmed/28405347 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-017-0062-x |
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