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Alleviating transcript insufficiency caused by Friedreich’s ataxia triplet repeats
Expanded GAA·TTC trinucleotide repeats in intron 1 of the frataxin gene cause Friedreich’s ataxia (FRDA) by reducing frataxin mRNA levels. Insufficient frataxin, a nuclear encoded mitochondrial protein, leads to the progressive neurodegeneration and cardiomyopathy characteristic of FRDA. Previously...
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| Main Authors: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2000
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC115239/ https://ncbi.nlm.nih.gov/pubmed/11121484 |
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