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Article

Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology.

Clinical biochemistry - 1 Apr 2004

Mashima Yukihiko, Nagano Makoto, Funayama Tomoyo, Zhang Qiang, Egashira Tohru, Kudho Jun, Shimizu Nobuyoshi, Oguchi Yoshihisa

Abstract excerpt

PURPOSE: To quantify the degree of heteroplasmy of a mitochondrial DNA (mtDNA) mutation in Leber's hereditary optic neuropathy (LHON) a biplex Invader assay was applied. METHODS: To determine the optimum condition for the Invader assay, mtDNAs were assayed in various amounts of total DNA in 1-4-h incubations at 63 degrees C. To evaluate the suitability of the Invader assay to detect the three mutations, G3460A,...

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Share to Optic Atrophy, Hereditary, Leber

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Share to Polymorphism, Single-Stranded Conformational

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Identifiers

PMID: 15003728
DOI: 10.1016/j.clinbiochem.2003.11.011

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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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