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| http://purl.uniprot.org/citations/8732640 | http://www.w3.org/2000/01/rdf-schema#comment | "Copper is a trace element necessary for the normal function of several important enzymes but copper homeostasis is still poorly understood. In recent years remarkable progress has been made in this field following the isolation of the gene defective in Menkes disease. Menkes disease and occipital horn syndrome are X-linked recessive disorders, demonstrating the vital importance of copper, which is also highly toxic in excessive amounts. Its destructive effects are reflected in the autosomal recessive Wilson's disease. Progressive neurodegeneration and connective tissue disturbances are the main manifestations of Menkes disease. Although many patients present a severe clinical course, variable forms can be distinguished, and the occipital horn syndrome has been suggested to be a mild allelic form. The Menkes locus is mapped to Xq13.3 and the gene defective in Menkes disease has been isolated by positional cloning. The gene is predicted to encode an energy-dependent copper-binding protein, the first intracellular copper transporter described in eukaryotes. Isolation of the gene and subsequent characterization of the exon-intron organization now enables the establishment of DNA-based diagnostic methods. Furthermore, identification of the Menkes disease gene led to other important findings, such as isolation of its mouse homologue, confirming the allelic relationship between Menkes disease and occipital horn syndrome, and isolation of the defective genes in Wilson's disease and its rat homologue."xsd:string |
| http://purl.uniprot.org/citations/8732640 | http://purl.org/dc/terms/identifier | "doi:10.3109/07853899609092936"xsd:string |
| http://purl.uniprot.org/citations/8732640 | http://purl.uniprot.org/core/author | "Horn N."xsd:string |
| http://purl.uniprot.org/citations/8732640 | http://purl.uniprot.org/core/author | "Tumer Z."xsd:string |
| http://purl.uniprot.org/citations/8732640 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8732640 | http://purl.uniprot.org/core/name | "Ann Med"xsd:string |
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| http://purl.uniprot.org/citations/8732640 | http://purl.uniprot.org/core/title | "Menkes disease: recent advances and new insights into copper metabolism."xsd:string |
| http://purl.uniprot.org/citations/8732640 | http://purl.uniprot.org/core/volume | "28"xsd:string |
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