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Article

<i>FXN</i> methylation predicts expression and clinical outcome in Friedreich ataxia

25 Nov 2011

Abstract excerpt

OBJECTIVE: Friedreich ataxia (FA) is the most common ataxia and results from an expanded GAA repeat in the first intron of FXN. This leads to epigenetic modifications and reduced frataxin. We investigated the relationships between genetic, epigenetic, and clinical parameters in a large case-control study of FA. METHODS: Clinical data and samples were obtained from individuals with FA during annual visits to our...

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PMID: 22522441
DOI: 10.1002/ana.22671

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<i>FXN</i> methylation predicts expression and clinical outcome in Friedreich ataxiaPMID 22522441Read ↗

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