Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency

Journal of Inherited Metabolic Disease

Volumn 28, Issue 3, 2005, Pages 301-309

  Baumgartner, Matthias R ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; GLYCINE DERIVATIVE; ISOVALERIC ACID; METHYLCROTONOYL COENZYME A CARBOXYLASE; MITOCHONDRIAL ENZYME; MUTANT PROTEIN; PROTEIN SUBUNIT;

ACIDURIA; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMISTRY; DISEASE SEVERITY; DOMINANT INHERITANCE; ENZYME DEFICIENCY; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; HETEROZYGOTE; HUMAN; IN VIVO STUDY; MISSENSE MUTATION; MOLECULAR MECHANICS; NEUROLOGIC DISEASE; PHENOTYPE; PROTEIN FUNCTION; SYMPTOMATOLOGY; URINARY EXCRETION; WILD TYPE;

ALLELES; CARBON-CARBON LIGASES; GENE DOSAGE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; METABOLISM, INBORN ERRORS;

EID: 19444365936     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-7054-3     Document Type: Article

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