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Precise and simultaneous quantification of mitochondrial DNA heteroplasmy and copy number by digital PCR

Mitochondrial DNA (mtDNA) is present in multiple copies and phenotypic consequences of mtDNA mutations depend on the mutant load surpassing a specific threshold. Additionally, changes in mtDNA copy number can impact mitochondrial ATP production, resulting in disease. Therefore, the precise determina...

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Detalles Bibliográficos
Autores principales: Shoop, Wendy K., Gorsuch, Cassandra L., Bacman, Sandra R., Moraes, Carlos T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650046/
https://www.ncbi.nlm.nih.gov/pubmed/36209825
http://dx.doi.org/10.1016/j.jbc.2022.102574

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