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Article

Determining Mitochondrial 3243A>G Heteroplasmy Using an ARMS-ddPCR Strategy.

American journal of clinical pathology - 4 May 2022

Xu Pu, Jia Manli, Yan Jimei, Yuan Xiangshu, Yu Weidong, Zhou Zhuohua, Fang Hezhi, Gao Feng, Shen Lijun

Abstract excerpt

OBJECTIVES: Determining mitochondrial DNA (mtDNA) A-to-G substitution at nucleotide 3243 (m.3243A>G) heteroplasmy is essential for both precision diagnosis of m.3243A>G-associated mitochondrial disease and genetic counseling. Precise determination of m.3243A>G heteroplasmy is challenging, however, without appropriate strategies to accommodate heteroplasmic levels ranging from 1% to 100% in samples carrying...

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Identifiers

PMID: 34698344
DOI: 10.1093/ajcp/aqab174

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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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