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Article

Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.

Journal of human genetics - 1 Jan 2025

Own-Eium Paravee, Dejsuphong Donniphat, Vathesatogkit Prin, Sritara Piyamitr, Sura Thanyachai, Aekplakorn Wichai, Suktitipat Bhoom, Eu-Ahsunthornwattana Jakris

Abstract excerpt

Wilson's disease (WD) is a rare metabolic disorder caused by variations in the ATP7B gene. It usually manifests hepatic, neurologic, and psychiatric symptoms due to excessive copper accumulation. The prevalence of WD and its common variants differ across populations. This study aimed to examine these aspects of WD within the Thai population, where information has been limited. We reviewed ClinVar and the Wilson...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39198578
DOI: 10.1038/s10038-024-01292-z

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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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