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Article

Recurrent tissue-specific mtDNA mutations are common in humans.

PLoS genetics - 1 Nov 2013

Samuels David C, Li Chun, Li Bingshan, Song Zhuo, Torstenson Eric, Boyd Clay Hayley, Rokas Antonis, Thornton-Wells Tricia A, Moore Jason H, Hughes Tia M, Hoffman Robert D, Haines Jonathan L, Murdock Deborah G, Mortlock Douglas P, Williams Scott M

Abstract excerpt

Mitochondrial DNA (mtDNA) variation can affect phenotypic variation; therefore, knowing its distribution within and among individuals is of importance to understanding many human diseases. Intra-individual mtDNA variation (heteroplasmy) has been generally assumed to be random. We used massively parallel sequencing to assess heteroplasmy across ten tissues and demonstrate that in unrelated individuals there are...

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Identifiers

PMID: 24244193
DOI: 10.1371/journal.pgen.1003929
PMCID: PMC3820769

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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