Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

American Journal of Human Genetics

Volumn 72, Issue 1, 2003, Pages 101-114

  Antonicka, Hana ^a   Mattman, Andre ^a   Carlson, Christopher G ^c   Glerum, D Moira ^c   Hoffbuhr, Kristen C ^d   Leary, Scot C ^a,b   Kennaway, Nancy G ^d   Shoubridge, Eric A ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF ALBERTA   (Canada)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOCHROME C OXIDASE; CYTOCHROME C OXIDASE 15; HEME; HEME OXYGENASE; MESSENGER RNA; MITOCHONDRIAL PROTEIN; MUTANT PROTEIN; TRYPTOPHAN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BIOSYNTHESIS; CASE REPORT; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME SYNTHESIS; EXON; FATALITY; FIBROBLAST; GENE DELETION; GENE MUTATION; HEART; HEME SYNTHESIS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INTRON; MISSENSE MUTATION; MITOCHONDRION; MUTATION RATE; NEWBORN; NULL ALLELE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFECT; PROTEIN EXPRESSION; RNA SPLICING; RNA STABILITY; SKIN FIBROBLAST; STOP CODON;

EID: 0037221950     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/345489     Document Type: Article

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