Associated Papers
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
A single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation.
Wang S et al.
Iscience, 2025
Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.
Wang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.
Wang Y et al.
Frontiers in Genetics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.
Hou H et al.
Frontiers in Genetics, 2022
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic Medicine, 2021
Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.
Qiao L et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
Li X et al.
American Journal of Medical Genetics. Part A, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Shim JO et al.
Journal of Korean Medical Science, 2018
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y et al.
Theranostics, 2016
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z et al.
Neuroreport, 2014
Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.
Abuduxikuer K et al.
Plos One, 2014
KMD: Korean Mutation Database for genes related to diseases.
Park MH et al.
Human Mutation, 2012
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
Wang LH et al.
Journal of Human Genetics, 2011
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
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
Mak CM et al.
Journal of Human Genetics, 2008
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Non-coding RNAs in Wilson's Disease: Plausible drivers of hepatic symptom heterogeneity.
Sarkar N et al.
Mutation Research. Reviews in Mutation Research, 0