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Article

[Spectrum of pathogenic mtDNA mutations in Leber hereditary optic neuropathy families from Siberia].

Genetika - 1 Jan 2006

Volod'ko N V, L'vova M A, Starikovskaia E B, Derbeneva O A, Bychkov I Iu, Mikhaĭlovskaia I E, Pogozheva I V, Fedotov F F, Soyan G V, Procaccio V, Wallace D C, Sukernik R I

Abstract excerpt

The results of clinical, genealogical and molecular investigation of eighteen families with Leber hereditary optic neuropathy (LHON), identified on the territory of Siberia during the period from 1997 to 2005, are presented. Comprehensive analysis of mitochondrial genome variations in probands and their matrilineal relatives revealed the presence of relatively frequent (G11778A, G3460A, and T14484C), as well as...

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PMID: 16523671

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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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