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Article

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

Biochemical and biophysical research communications - 30 Sept 1992

Johns D R, Neufeld M J, Park R D

Abstract excerpt

A mitochondrial DNA mutation at nucleotide position 14,484 was found in 14 independent probands with Leber hereditary optic neuropathy and in 0/250 controls. The 14,484 mutation, which changes methionine-64 to valine in a conserved domain of the ND-6 gene, occurred in association with a mitochondrial DNA haplotype that includes the 13,708 secondary mutation in 10/14 probands. An associated mutation at nucleotide...

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Source

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PMID: 1417830
DOI: 10.1016/0006-291x(92)90479-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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