Menkes disease: Underlying genetic defect and new diagnostic possibilities

Journal of Inherited Metabolic Disease

Volumn 21, Issue 5, 1998, Pages 604-612

  Tumer Z ^a   Horn, N ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER;

CONFERENCE PAPER; COPPER METABOLISM; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HOMEOSTASIS; HUMAN; MENKES SYNDROME; MOLECULAR CLONING; PHENOTYPE; PRENATAL DIAGNOSIS;

ANIMALS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MENKES KINKY HAIR SYNDROME;

EID: 0031848345     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005479307906     Document Type: Conference Paper

References (44)

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