Molecular analysis and diagnosis in Japanese patients with Wilson’s disease.

SHIMIZU N; NAKAZONO H; TAKESHITA Y; IKEDA C; FUJII H; WATANABE A; YAMAGUCHI Y; HEMMI H; AOKI T

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J-GLOBAL ID：200902149173338193 Reference number：99A0730898

Molecular analysis and diagnosis in Japanese patients with Wilson’s disease.

Wilson病とMenkes病日本人のWilson病患者における分子分析と診断

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Material：
Volume： 41 Issue： 4 Page： 409-413 Publication year： Aug. 1999
JST Material Number： Z0373B ISSN： 1328-8067 Document type： Article
Article type：原著論文 Country of issue： Japan (JPN) Language： ENGLISH (EN)

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Digestive system diagnosis

Reference (20)：

DANKS, DM. Disorder of copper transport. The Metabolic and Molecular Basis of Inherited Disease. 1995, 2211-2235
YAMAGUCHI, Y. Isolation and characterization 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 ATPase similar to the Menkes gene. Nat. Genet. 1993, 5, 327-337
PETRUKHIN, K. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat. Genet. 1993, 5, 338-343
TANZI, RE. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat. Genet. 1993, 5, 344-350

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