Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Objective Single, large‐scale deletions in mitochondrial DNA (mtDNA) are a common cause of mitochondrial disease. This study aimed to investigate the relationship between the genetic defect and molecular phenotype to improve understanding of pathogenic mechanisms associated with single, large‐scale...

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Veröffentlicht in:Annals of neurology 2018-01, Vol.83 (1), p.115-130
Hauptverfasser: Rocha, Mariana C., Rosa, Hannah S., Grady, John P., Blakely, Emma L., He, Langping, Romain, Nadine, Haller, Ronald G., Newman, Jane, McFarland, Robert, Ng, Yi Shiau, Gorman, Grainne S., Schaefer, Andrew M., Tuppen, Helen A., Taylor, Robert W., Turnbull, Doug M.
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Sprache:eng
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