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Article

Impact of disease-related mitochondrial mutations on tRNA structure and function.

Trends in biochemical sciences - 1 Nov 2003

Wittenhagen Lisa M, Kelley Shana O

Abstract excerpt

Over 150 mutations with documented pathogenicity have been identified within the human mitochondrial genome. More than half of the disease-related mutations are located within tRNA genes, a remarkable trend, given that these sequences comprise only 10% of the genome. The discovery of diseases correlated with mitochondrial tRNA mutations provides the first example of a class of pathologies related to RNA function,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14607091
DOI: 10.1016/j.tibs.2003.09.006

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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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