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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2021-09-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1735 |