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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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Detaylı Bibliyografya
Yayımlandı:Ann Clin Transl Neurol
Asıl Yazarlar: Bhalla, Angela D., Khodadadi‐Jamayran, Alireza, Li, Yanjie, Lynch, David R., Napierala, Marek
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2016
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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