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Article

mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers.

Journal of human genetics - 1 Jan 2004

Nishioka Tomoki, Soemantri Augustinus, Ishida Takafumi

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease caused by mitochondrial DNA (mtDNA) mutations. In this study, the mtDNA/nuclear DNA ratio was evaluated in 11 LHON patients with the 14484 mutation, 13 asymptomatic carriers and 18 non-carrier relatives as controls, to reveal possible relationships between the disease and mtDNA content. DNAs from peripheral blood lymphocytes were...

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PMID: 15635488
DOI: 10.1007/s10038-004-0209-5

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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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