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Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Translational neurodegeneration - 28 Feb 2022

Zhang Shijie, Yang Wenming, Li Xiang, Pei Pei, Dong Ting, Yang Yue, Zhang Jing

Abstract excerpt

BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B (encoding a copper-transporting P-type ATPase) variants that shows various characteristics according to race and geographical region. This study was aimed to provide a comprehensive analysis of ATP7B variants in China and to investigate a plausible role of common variants in WD manifestations. METHODS: A...

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Identifiers

PMID: 35220961
DOI: 10.1186/s40035-022-00287-0
PMCID: PMC8883683

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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