Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

Human Molecular Genetics

Volumn 9, Issue 5, 2000, Pages 795-801

  Jaksch, Michaela ^a   Ogilvie, Isla ^b   Yao, Jianbo ^b   Kortenhaus, Gisela ^c   Bresser, Hans Georg ^d   Gerbitz, Klaus Dieter ^a   Shoubridge, Eric A ^b  

^a Klinikum Schwabing   (Germany)

^b MCGILL UNIVERSITY   (Canada)

^c OWL University   (Germany)

^d KLINIKUM NÜRNBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; COPPER; CYTOCHROME C OXIDASE;

ALLELE; ARTICLE; CHROMOSOME 22; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GENETIC CONSERVATION; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MALE; MISSENSE MUTATION; MITOCHONDRION; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; STOP CODON;

EID: 0034701251     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.5.795     Document Type: Article

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