Associated Papers
Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.
Miyano R et al.
Internal Medicine (tokyo, Japan), 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
Efficient variant phasing utilizing a replication cycle reaction system.
Mitsutake A et al.
Genetics in Medicine Open, 2025
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.
Al-Obaidi RGY et al.
Sultan Qaboos University Medical Journal, 2025
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.
Fan SP et al.
Journal of Movement Disorders, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death.
Chevalier K et al.
Journal of Inherited Metabolic Disease, 2021
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
Shi M et al.
Genes, 2021
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory.
Poon KS et al.
Journal of Clinical Pathology, 2020
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G et al.
Bmc Medical Genetics, 2018
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
Poon KS et al.
Clinical Biochemistry, 2016
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
P-coumaric acid regulates exon 12 splicing of the ATP7B gene by modulating hnRNP A1 protein expressions.
Lin YJ et al.
Biomedicine, 2015
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
Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.
Wei X et al.
Plos One, 2011
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L et al.
Hepatology (baltimore, Md.), 2010
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.
Cox DW et al.
Human Mutation, 2005
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
Wu ZY et al.
Archives of Neurology, 2001