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Article

An intragenic suppressor in the cytochrome c oxidase I gene of mouse mitochondrial DNA.

Human molecular genetics - 1 Feb 2003

Acín-Pérez Rebeca, Bayona-Bafaluy María Pilar, Bueno Marta, Machicado Claudia, Fernández-Silva Patricio, Pérez-Martos Acisclo, Montoya Julio, López-Pérez M J, Sancho Javier, Enríquez José Antonio

Abstract excerpt

We report here the identification of a cell line containing single and double missense mutations in cytochrome c oxidase (COX) subunit I gene of mouse mitochondrial DNA. When present in homoplasmy, the single mutant displays a normal complex IV assembly but a significantly reduced COX activity, while the double mutant almost completely compensates the functional defect of the first mutation. We discuss the...

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PMID: 12554686
DOI: 10.1093/hmg/ddg021

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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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