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Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Theranostics - 1 Jan 2016

Dong Yi, Ni Wang, Chen Wan-Jin, Wan Bo, Zhao Gui-Xian, Shi Zhu-Qing, Zhang Yue, Wang Ning, Yu Long, Xu Jian-Feng, Wu Zhi-Ying

Abstract excerpt

BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B pathogenic mutations. The symptoms of WD can be effectively prevented if the affected individuals are identified and intervened early. However, clinical utility of this molecular analysis is challenging due to hundreds of variants with various clinical effects in the gene. Here, we aim to describe the...

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Identifiers

PMID: 27022412
DOI: 10.7150/thno.14596
PMCID: PMC4805659

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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