Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

PURPOSE: Mitochondrial disorders are a common cause of inherited metabolic disease and can be due to mutations affecting mitochondrial DNA or nuclear DNA. The current diagnostic approach involves the targeted resequencing of mitochondrial DNA and candidate nuclear genes, usually proceeds step by ste...

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Detalles Bibliográficos
Autores principales: Griffin, Helen R., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Duff, Jennifer, Hudson, Gavin, Horvath, Rita, Wilson, Ian J., Santibanez-Koref, Mauro, Taylor, Robert W., Chinnery, Patrick F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272251/
https://www.ncbi.nlm.nih.gov/pubmed/24901348
http://dx.doi.org/10.1038/gim.2014.66

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272251/
https://www.ncbi.nlm.nih.gov/pubmed/24901348
http://dx.doi.org/10.1038/gim.2014.66

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