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Detection of Mutations in Mitochondrial DNA by Droplet Digital PCR.

Biochemistry. Biokhimiia - 1 Oct 2016

Sofronova J K, Ilinsky Y Y, Orishchenko K E, Chupakhin E G, Lunev E A, Mazunin I O

Abstract excerpt

Mutations in mitochondrial DNA (mtDNA) may result in various pathological processes. Detection of mutant mtDNAs is a problem for diagnostic practice that is complicated by heteroplasmy - a phenomenon of the inferring presence of at least two allelic variants of the mitochondrial genome. Also, the level of heteroplasmy largely determines the profile and severity of clinical manifestations. Here we discuss...

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PMID: 27908228
DOI: 10.1134/S0006297916100011

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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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