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Qiaoyu Xuan

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Review Open access Jul 2026

Recent advances in research on high-frequency mutations in the ATP7B gene associated with Wilson disease in the Chinese population: from genetic evolution to precision medicine

Wilson disease (WD) is a hereditary disorder of copper metabolism caused by mutations in the ATP7B gene; the Chinese population exhibits a unique, high-frequency mutation profile centered on the R778L and P992L mutations. This article provides a narrative review of the genetic evolution, molecular pathogenic mechanisms...

Qiaoyu Xuan, Daiping Hua, Lanting Sun et al. · 0 citations

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