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High-Throughput Detection of mtDNA Mutations Leading to tRNA Processing Errors.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2021

Isokallio Marita Annika, Stewart James Bruce

Abstract excerpt

Some mutations in the tRNA genes of mitochondrial DNA (mtDNA) have been demonstrated to affect the processing of the mitochondrial transcriptome in human patients with mitochondrial disease. A recent analysis of mtDNA mutations in 527 human tumors revealed that approximately a quarter of the somatic mt-tRNA gene mutations lead to aberrant processing of the mitochondrial transcriptome in these tumors. Here, we...

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PMID: 33230770
DOI: 10.1007/978-1-0716-0834-0_10

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