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Article

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Proceedings of the National Academy of Sciences of the United States of America - 21 Jan 2003

Mootha Vamsi K, Lepage Pierre, Miller Kathleen, Bunkenborg Jakob, Reich Michael, Hjerrild Majbrit, Delmonte Terrye, Villeneuve Amelie, Sladek Robert, Xu Fenghao, Mitchell Grant A, Morin Charles, Mann Matthias, Hudson Thomas J, Robinson Brian, Rioux John D, Lander Eric S

Abstract excerpt

Identifying the genes responsible for human diseases requires combining information about gene position with clues about biological function. The recent availability of whole-genome data sets of RNA and protein expression provides powerful new sources of functional insight. Here we illustrate how such data sets can expedite disease-gene discovery, by using them to identify the gene causing Leigh syndrome,...

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Identifiers

PMID: 12529507
DOI: 10.1073/pnas.242716699
PMCID: PMC141043

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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