Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes

Journal of Inherited Metabolic Disease

Volumn 26, Issue 1, 2003, Pages 55-66

  Fu, X ^a   Rinaldo, P ^b   Hahn, S H ^b   Kodama, H ^c   Packman, S ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MAYO CLINIC   (United States)

^c TEIKYO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CARRIER PROTEIN; CHAPERONE; COPPER; COPPER TRANSPORTER; CYTOCHROME C OXIDASE; ETHYLMALONIC ACID; GUANINE; MALONIC ACID DERIVATIVE; MESSENGER RNA; SUPEROXIDE DISMUTASE; UNCLASSIFIED DRUG;

ARTICLE; CELL TRANSPORT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; COPPER DEFICIENCY; COPPER METABOLISM; CYTOCHROME C OXIDASE DEFICIENCY; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA POLYMORPHISM; FEMALE; GENETIC CODE; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; METABOLIC ENCEPHALOPATHY; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; SEQUENCE ANALYSIS;

BLOTTING, NORTHERN; BRAIN DISEASES, METABOLIC; CATION TRANSPORT PROTEINS; CELLS, CULTURED; CHILD; COPPER; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FATTY ACIDS; FEMALE; FIBROBLASTS; HUMANS; LIPID METABOLISM, INBORN ERRORS; LYMPHOCYTES; MALE; MALONATES; MENTAL RETARDATION; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR CHAPERONES; OXIDATION-REDUCTION; PHENOTYPE;

EID: 0038389513     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1024027630589     Document Type: Article

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