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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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5893934/
https://ncbi.nlm.nih.gov/pubmed/29283441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25127
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