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Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain

Due largely to the inability to accurately quantify and characterize de novo deletion events, the mechanisms underpinning the pathogenic expansion of mtDNA deletions in aging and neuromuscular disorders remain poorly understood. Here, we outline and validate a new tool termed ‘Digital Deletion Detec...

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Detalles Bibliográficos
Autores principales:	Taylor, Sean D, Ericson, Nolan G, Burton, Joshua N, Prolla, Tomas A, Silber, John R, Shendure, Jay, Bielas, Jason H
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BlackWell Publishing Ltd 2014
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068027/ https://www.ncbi.nlm.nih.gov/pubmed/23911137 http://dx.doi.org/10.1111/acel.12146

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