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Article

Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations.

Laboratory medicine - 7 Mar 2024

Matsumoto Shinya, Uchiumi Takeshi, Noda Nozomi, Ueyanagi Yasushi, Hotta Taeko, Kang Dongchon

Abstract excerpt

OBJECTIVE: Different mitochondrial DNA genotypes can coexist in a cell population as well as in a single cell, a condition known as heteroplasmy. Here, we accurately determined the heteroplasmy levels of the m.3243A>G mutation, which is the most frequently identified mutation in patients with mitochondrial diseases, using droplet digital polymerase chain reaction (ddPCR). METHODS: The m.3243A>G heteroplasmy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37478467
DOI: 10.1093/labmed/lmad063
PMCID: PMC10920975

Provenance

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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