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

6 Dec 2023

Abstract excerpt

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 through the biliary tract. To date, ATP7B remains the only identified gene that has been linked to the development of this...

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PMID: 38149214
DOI: 10.1016/j.ymgmr.2023.101034

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