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

Abstract Background 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...

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Bibliographic Details
Main Authors: Zhongyan Xiao, Yuan Yang, Hui Huang, Haiyan Tang, Liqun Liu, Jianguang Tang, Xiaoliu Shi
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1735