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Background Wilson disease (WND), also called hepatolenticular degeneration, is an autosomal recessive genetic disorder in which copper abnormally accumulates in several organs. WND arises from the defective ATP7B gene, which encodes a copper transporting P-type ATPase. Methods The molecular defects in 11 unrelated Chinese WND patients aged from 3 to 12 years were investigated. The diagnosis of these...
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