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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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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 |
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