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Article

A tRNA suppressor mutation in human mitochondria.

Nature genetics - 1 Apr 1998

El Meziane A, Lehtinen S K, Hance N, Nijtmans L G, Dunbar D, Holt I J, Jacobs H T

Abstract excerpt

Mitochondrial mutations are associated with a wide spectrum of human diseases. A common class of point mutations affects tRNA genes, and mutations in the tRNA-leu(UUR) gene (MTTL1) are the most frequently detected. In earlier studies, we showed that lung carcinoma cybrid cells containing high levels (greater than 95%) of mutated mtDNA from a patient with the pathological nucleotide pair (np) 3243 tRNA-leu(UUR)...

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Identifiers

PMID: 9537417
DOI: 10.1038/ng0498-350

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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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