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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893934/
https://www.ncbi.nlm.nih.gov/pubmed/29283441
http://dx.doi.org/10.1002/ana.25127