A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

Nature Genetics

Volumn 12, Issue 4, 1996, Pages 410-416

  Keightley, J Andrew ^a,c   Hoffbuhr, Kristen C ^a   Burton, Miriam D ^a   Salas, Virginia M ^a   Johnston, Wendy S W ^a   Penn, Andrew M W ^b   Buist, Neil R M ^a   Kennaway, Nancy G ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ARTICLE; CHROMOSOME REARRANGEMENT; ENZYME DEFICIENCY; ENZYME SUBUNIT; GENE DELETION; GENETIC CODE; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MITOCHONDRIAL MYOPATHY; MYOGLOBINURIA; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RECURRENT DISEASE; RESPIRATORY CHAIN; STRUCTURAL GENE;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CYTOCHROME-C OXIDASE DEFICIENCY; DNA; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GENOTYPE; HISTOCYTOCHEMISTRY; HUMANS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MYOGLOBINURIA; PHENOTYPE; PROTEIN CONFORMATION; RECURRENCE; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0030003760     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0496-410     Document Type: Article

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