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Cardiomyopathy in Friedreich Ataxia: Clinical Findings and Research
Friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often due to a triplet expansion in the nuclear FXN gene. The gene cannot be transcribed to generate the messenger RNA for frataxin. Frataxin is an iron-binding protein targeted to...
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| Main Authors: | , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2012
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3674565/ https://ncbi.nlm.nih.gov/pubmed/22764179 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812448535 |
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