Associated Papers
Use of Estonian Biobank data and participant recall to improve Wilson's disease management.
Nurm M et al.
European Journal of Human Genetics : Ejhg, 2025
Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.
Own-Eium P et al.
Journal of Human Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
Jia S 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
Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters.
Zhou J et al.
Frontiers in Genetics, 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
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 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
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Li X et al.
Human Mutation, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
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
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
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L et al.
Hepatology (baltimore, Md.), 2010
Clinical features and therapeutic response in Taiwanese children with Wilson's disease: 12 years of experience in a single center.
Wang LC et al.
Pediatrics and Neonatology, 2010
Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
Tsai CH et al.
Human Mutation, 1998
Six novel ATP7B mutations in Thai patients with Wilson disease.
Panichareon B et al.
European Journal of Medical Genetics, 0