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Article

[Screening of familial primary biliary cholangitis and research on low-frequency mutations by whole-exome sequencing].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 May 2018

Zhang S, Guo G Y, Zhou X, Han Y

Abstract excerpt

Objective: Screening of patients with familial primary biliary cholangitis by using whole-exome sequence to find common low-frequency mutations and to explore its pathogenesis. Methods: The confirmed data of PBC patients diagnosed in Xijing hospital from 2005 to 2016 were collected, and their first-degree relatives' autoantibodies were screened for diagnosis. DNA extraction from PBC patients and normal controls...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29996209
DOI: 10.3760/cma.j.issn.1007-3418.2018.05.014
PMCID: PMC12769031

Genes

ANO2

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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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