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Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia
OBJECTIVE: Friedreich's ataxia (FRDA) is an autosomal recessive trinucleotide repeat expansion disorder caused by epigenetic silencing of the frataxin gene (FXN). Current research suggests that damage and variation of mitochondrial DNA (mtDNA) contribute to the molecular pathogenesis of FRDA. W...
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Yayımlandı: | Ann Clin Transl Neurol |
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Asıl Yazarlar: | , , , , |
Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2016
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4931717/ https://ncbi.nlm.nih.gov/pubmed/27386501 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.322 |
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