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Clinical Features of Friedreich Ataxia
Friedreich ataxia, the most common hereditary ataxia, affects about 1:29 000 Caucasians. In about 98% of these individuals it is due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN; in the other 2% it is due to compound heterozygosity for a GAA expansion and point mutatio...
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2012
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3674491/ https://ncbi.nlm.nih.gov/pubmed/22752493 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812448230 |
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