Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report
Abstract Background Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson's disease. Case presentation We describe a male case of Wilson's disease diagnosed at...
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BMC,
2018-04-01T00:00:00Z.
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