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

Volumn 100, Issue 2, 2003, Pages 605-610

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

^a MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c MDS Proteomics A/S   (Denmark)

^d MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF MONTREAL   (Canada)

^g Clinical Research Unit   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ARTICLE; CHROMOSOME 2P; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC TRANSCRIPTION; GENOMICS; GENOTYPE; HUMAN; HUMAN CELL; LEIGH DISEASE; MITOCHONDRIAL GENETICS; MOLECULAR CLONING; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PURIFICATION;

AMINO ACID SEQUENCE; CYTOCHROME-C OXIDASE DEFICIENCY; GENOMICS; HUMANS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PROTEOMICS; RNA, MESSENGER;

EID: 0037458031     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.242716699     Document Type: Article

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