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Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified

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Wilson's disease (WD) is a rare autosomal recessive inherited disorder that is induced by defects of the ATP7B gene and characterized by damage to the liver and nervous system caused… Click to show full abstract

Wilson's disease (WD) is a rare autosomal recessive inherited disorder that is induced by defects of the ATP7B gene and characterized by damage to the liver and nervous system caused by aberrant copper metabolism. The identification of pathogenic mutations on two homologous chromosomes has become the gold standard for the diagnosis of WD.

Keywords: families wilson; molecular analysis; analysis chinese; disease; wilson disease; chinese families

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021

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