Associated Papers
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
39719440 (PubMed )
Supplement: 41525_2024_459_MOESM1_ESM.pdf
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Huang C et al.
Journal of Clinical Laboratory Analysis, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Mutational analysis of ATP7B in Chinese Wilson disease patients.
Hua R et al.
American Journal of Translational Research, 2016
[A young boy with elevated aminotransferases in physical examination--Two novel missense mutations associated with Wilson's disease were found].
Zhu Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
Gu S et al.
Plos One, 2013
Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.
Mak CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
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