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Article

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Human genetics - 1 Oct 1993

Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus M L

Abstract excerpt

The mitochondrial complex I genes were sequenced in seven Leber hereditary optic neuroretinopathy (LHON) families without the ND4/11,778 and ND1/3460 mutations. Four replacement mutations restricted only to LHON families were found, one in the ND1 gene at nt 4025, and three in the ND5 gene at nt 12,811, 13,637, and 13,967. The mutations did not change evolutionarily conserved amino acids suggesting that they are...

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Identifiers

PMID: 7901141
DOI: 10.1007/BF01247339

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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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