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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Detalles Bibliográficos
Autores principales: Bhalla, Angela D., Khodadadi‐Jamayran, Alireza, Li, Yanjie, Lynch, David R., Napierala, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931717/
https://www.ncbi.nlm.nih.gov/pubmed/27386501
http://dx.doi.org/10.1002/acn3.322

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931717/
https://www.ncbi.nlm.nih.gov/pubmed/27386501
http://dx.doi.org/10.1002/acn3.322

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