Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1366-1370

  Leary, Scot C ^a   Antonicka, Hana ^b,c   Sasarman, Florin ^b,c   Weraarpachai, Woranontee ^b,c   Cobine, Paul A ^d   Pan, Min ^a   Brown, Garry K ^e   Brown, Ruth ^e   Majewski, Jacek ^b   Ha, Kevin C H ^b   Rahman, Shamima ^f   Shoubridge, Eric A ^b,c  

^a UNIVERSITY OF SASKATCHEWAN   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d AUBURN UNIVERSITY   (United States)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Copper; Cytochrome c oxidase; Metallochaperone; Mitochondrial diseases; SCO1

Indexed keywords

ALLELE; ARTICLE; BRAIN DISEASE; CASE REPORT; COPPER DEFICIENCY; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE COURSE; ENZYME ACTIVITY; EXOME; EXON; FIBROBLAST; GENE OVEREXPRESSION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INFANT DISEASE; INTRON; LACTIC ACIDOSIS; LIVER DISEASE; MISSENSE MUTATION; MUSCLE BIOPSY; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; PRIORITY JOURNAL; RESIDUAL VOLUME; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STEADY STATE; STOP CODON;

COPPER; CYTOCHROME C OXIDASE; METALLOCHAPERONE; MITOCHONDRIAL DISEASES; SCO1;

ACIDOSIS, LACTIC; ALLELES; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; GENE ORDER; HUMANS; INFANT; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; SEQUENCE ALIGNMENT;

EID: 84884531240     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22385     Document Type: Article

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