A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase [1]

Journal of Medical Genetics

Volumn 40, Issue 4, 2003, Pages 290-295

  Kim, B E ^a   Smith, K ^a   Petris, M J ^a  

^a University of Missouri   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COPPER; COPPER DERIVATIVE; HISTIDINE COPPER; MNK PROTEIN; MONOPHENOL MONOOXYGENASE; MUTANT PROTEIN; UNCLASSIFIED DRUG; ATP7A PROTEIN, HUMAN; BREFELDIN A; CATION TRANSPORT PROTEIN; HYBRID PROTEIN;

ARTICLE; CASE REPORT; CELL CULTURE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME SYNTHESIS; EXON; GENE DELETION; GENE MUTATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; INFANT; MALE; MENKES SYNDROME; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; CELL LINE; DRUG EFFECT; FLUORESCENCE MICROSCOPY; GENETIC TRANSFECTION; GENETICS; LETTER; METABOLISM; MUTATION; PLASMID; TRANSPORT AT THE CELLULAR LEVEL;

ADENOSINE TRIPHOSPHATASES; BIOLOGICAL TRANSPORT; BREFELDIN A; CATION TRANSPORT PROTEINS; CELL LINE; COPPER; GOLGI APPARATUS; HUMANS; MENKES KINKY HAIR SYNDROME; MICROSCOPY, FLUORESCENCE; MUTATION; PLASMIDS; RECOMBINANT FUSION PROTEINS; TRANSFECTION;

EID: 0037374848     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

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