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Article

Universal heteroplasmy of human mitochondrial DNA.

Human molecular genetics - 15 Jan 2013

Payne Brendan A I, Wilson Ian J, Yu-Wai-Man Patrick, Coxhead Jonathan, Deehan David, Horvath Rita, Taylor Robert W, Samuels David C, Santibanez-Koref Mauro, Chinnery Patrick F

Abstract excerpt

Mammalian cells contain thousands of copies of mitochondrial DNA (mtDNA). At birth, these are thought to be identical in most humans. Here, we use long read length ultra-deep resequencing-by-synthesis to interrogate regions of the mtDNA genome from related and unrelated individuals at unprecedented resolution. We show that very low-level heteroplasmic variance is present in all tested healthy individuals, and is...

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Identifiers

PMID: 23077218
DOI: 10.1093/hmg/dds435
PMCID: PMC3526165

Genes

OPA1
POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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