Friedreich Ataxia: current status and future prospects
Abstract 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 prot...
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| Format: | Article |
| Language: | English |
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BMC
2017-04-01
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| Series: | Cerebellum & Ataxias |
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| Online Access: | http://link.springer.com/article/10.1186/s40673-017-0062-x |