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Article

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.

American journal of human genetics - 1 Jun 2003

Howell Neil, Oostra Roelof-Jan, Bolhuis Piet A, Spruijt Liesbeth, Clarke Lorne A, Mackey David A, Preston Gwen, Herrnstadt Corinna

Abstract excerpt

The complete mitochondrial DNA (mtDNA) sequences for 63 Dutch pedigrees with Leber hereditary optic neuropathy (LHON) were determined, 56 of which carried one of the classic LHON mutations at nucleotide (nt) 3460, 11778, or 14484. Analysis of these sequences indicated that there were several instances in which the mtDNAs were either identical or related by descent. The most striking example was a haplogroup J...

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Identifiers

PMID: 12736867
DOI: 10.1086/375537
PMCID: PMC1180306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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