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Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.

Molecular genetics & genomic medicine - 1 Aug 2021

Qiao Lingyan, Ge Juan, Li Cheng, Liu Yusheng, Hu Conghui, Hu Sicui, Li Wenjie, Li Tang

Abstract excerpt

BACKGROUND: Despite the increasing number of reports on the analysis of ATP7B variants, reports on carrier screening for Wilson's disease (WD, OMIM:277900) are rare. METHODS: Peripheral blood samples were collected from 42 patients from Qingdao Women and Children's Hospital diagnosed with WD for direct sequencing of ATP7B gene. Twelve hotspot variants of ATP7B were selected for carrier screening in Qingdao area...

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PMID: 34240825
DOI: 10.1002/mgg3.1741
PMCID: PMC8404232

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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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