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Article

[Phenotype and genotype analysis of 55 children patients with Wilson's disease].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Jul 2020

Zhou X Y, Yin H X, Wang C L, Liu Z F, Zheng B X, Jin Y

Abstract excerpt

Objective: To understand the clinical phenotype and spectrum of ATP7B gene mutation in children with Wilson's disease (WD). Methods: A total of 55 cases diagnosed with WD at the Children's Hospital Affiliated to Nanjing Medical University from June 2012 to June 2018 were taken as the research subject. ATP7B gene point mutation was detected by direct sequencing after PCR amplification. Heterozygous mutation in...

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Identifiers

PMID: 32791797
DOI: 10.3760/cma.j.cn501113-20190423-00143
PMCID: PMC12769058

Genes

ATP7B

Provenance

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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