Mutations of the SCO1 gene in mitochondiral cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy

American Journal of Human Genetics

Volumn 67, Issue 5, 2000, Pages 1104-1109

  Valnot, I ^a   Osmond, S ^a   Gigarel, N ^a   Mehaye, B ^a   Amiel, J ^a   Cormier Daire, V ^a   Munnich, A ^a   Bonnefont, J P ^a   Rustin, P ^a   Rotig, A ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL ENZYME;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; KETOACIDOSIS; LIVER FAILURE; MALE; NEWBORN; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN STRUCTURE;

EID: 0033754154     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321202     Document Type: Article

References (31)

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