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Article

[Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region].

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

Aerziguli Aierken, Li C Z, Hu L H, Lu X B, Sun X F

Abstract excerpt

Objective: To understand the mutational characteristics of ATP7B gene of hepatolenticular degeneration in Xinjiang region. Methods: 24 cases were diagnosed as hepatolenticular degeneration and the exon of ATP7B gene was detected in some of their siblings and parents. Results: A total of 45 ATP7B gene mutations (93.75%) were detected in 24 cases, of which 14 cases were homozygous mutations or compound heterozygous...

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Identifiers

PMID: 32911910
DOI: 10.3760/cma.j.cn501113-20200803-00433
PMCID: PMC12770201

Genes

ATP7B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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