The mutation spectrum and ethnic distribution of Wilson disease, a review

The mutation spectrum and ethnic distribution of Wilson disease, a review

Wilson's disease is a complicated medical condition caused by the accumulation of copper, mostly in the liver and brain. The genetic basis of Wilson's disease is attributed to the presence of pathogenic variants in the ATP7B copper-transporting gene, which prevents the excretion of copper...

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Bibliographic Details
Main Authors: Zahra Beyzaei, Arman Mehrzadeh, Niko Hashemi, Bita Geramizadeh
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Wilson
Genotype
Variants
ATP7B
Mutation spectrum
Ethnics
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000800

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http://www.sciencedirect.com/science/article/pii/S2214426923000800

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