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Article

Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis.

Clinical chemistry - 1 Aug 2003

Chabi Béatrice, Mousson de Camaret Bénédicte, Duborjal Hervé, Issartel Jean-Paul, Stepien Georges

Abstract excerpt

BACKGROUND: Many mitochondrial pathologies are quantitative disorders related to tissue-specific deletion, depletion, or overreplication of mitochondrial DNA (mtDNA). We developed an assay for the determination of mtDNA copy number by real-time quantitative PCR for the molecular diagnosis of such alterations. METHODS: To determine altered mtDNA copy number in muscle from nine patients with single or multiple...

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Identifiers

PMID: 12881447
DOI: 10.1373/49.8.1309

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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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