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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...
Autores principales: | Shoop, Wendy K., Gorsuch, Cassandra L., Bacman, Sandra R., Moraes, Carlos T. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Biochemistry and Molecular Biology
2022
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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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