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The Heart in Friedreich’s Ataxia: Basic Findings and Clinical Implications
Friedreich’s Ataxia is the most common inherited ataxia in man. It is a mitochondrial disease caused by severely reduced expression of the iron binding protein, frataxin. A large GAA triplet expansion in the human FRDA gene encoding this protein inhibits expression of this gene. It is inherited in a...
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| Hovedforfatter: | |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2011
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3117664/ https://ncbi.nlm.nih.gov/pubmed/21691434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ppedcard.2011.02.007 |
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