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Article

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

PLoS genetics - 1 Dec 2017

Wei Wei, Gomez-Duran Aurora, Hudson Gavin, Chinnery Patrick F

Abstract excerpt

Inherited mitochondrial DNA (mtDNA) mutations have emerged as a common cause of human disease, with mutations occurring multiple times in the world population. The clinical presentation of three pathogenic mtDNA mutations is strongly associated with a background mtDNA haplogroup, but it is not clear whether this is limited to a handful of examples or is a more general phenomenon. To address this, we determined...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29253894
DOI: 10.1371/journal.pgen.1007126
PMCID: PMC5757940

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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