Molecular genetics and pathophysiology of Menkes disease

Pediatrics International

Volumn 41, Issue 4, 1999, Pages 430-435

  Kodama, Hiroko ^a   Murata, Yoshiko ^a  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Menkes disease; Molecular genetics; Mottled mutant; Occipital horn disease; Pathophysiology

Indexed keywords

COPPER;

ANIMAL MODEL; CHROMOSOME XQ; CLINICAL FEATURE; COPPER DEFICIENCY; COPPER METABOLISM; DISEASE SEVERITY; GENE LOCATION; GENE MUTATION; MENKES SYNDROME; MOLECULAR GENETICS; MOUSE; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ANIMALS; COPPER; DISEASE MODELS, ANIMAL; GENE EXPRESSION; HOMEOSTASIS; HUMANS; MENKES KINKY HAIR SYNDROME; MICE; MUTATION;

EID: 0032769447     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200x.1999.01091.x     Document Type: Review

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