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J-GLOBAL ID：200902221338149164   Reference number：05A0055170

Inherited metabolic disorders of copper transport-Clinical features and pathophysiology of Wilson disease, Menkes disease and aceruloplasminemia-

遺伝性銅代謝異常症の臨床とその分子病態

Author (1)： AOKI TSUGUTOSHI (東邦大)
Material： Biomedical Research on Trace Elements  (Biomed Res Trace Elem)
Volume： 15  Issue： 4  Page： 307-315  Publication year： Dec. 31, 2004 
JST Material Number： L1046A  ISSN： 0916-717X  CODEN： BRTEE5  Document type： Proceedings
Article type： 文献レビュー  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： *Wilson's disease ,...
Semi thesaurus term： mental retardation ,...

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JST classification (3)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Reference (24)：

• VULPE, C. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet. 1993, 3, 7-13
• CHELLY, J. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet. 1993, 3, 14-19
• MERCER, JF. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet. 1993, 3, 20-25
• YAMAGUCHI, Y. Isolation and chsracterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun. 1993, 197, 271-277
• BULL, PC. The Wilson disease gene is a putative copper transporting P-type APTase similar to the Menkes gene. Nature Genet. 1993, 5, 327-337

Terms in the title (4)： 遺伝 ,  銅代謝異常症 ,  臨床 ,  分子病態