Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.

Abstract excerpt

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 patients...

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