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Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease

✍ Scribed by Manoj S. Nanji; T.T. Van Nguyen; Jean H. Kawasoe; Koji Inui; Fumio Endo; Takashi Nakajima; Toshiharu Anezaki; Diane W. Cox


Book ID
117855124
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
172 KB
Volume
60
Category
Article
ISSN
0002-9297

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Wilson disease is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPasi (ATP7B). We have carried out mutational analysis in 295 patients of Mediterranean origin with Wilson Disease, including 85 Sardinians, 120 Continental It