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
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
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
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
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
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 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 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Tuan Pham LA et al.
Journal of Genetics, 2017
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 analysis of ATP7B in Chinese Wilson disease patients.
Hua R et al.
American Journal of Translational Research, 2016
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L et al.
Hepatology (baltimore, Md.), 2010
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 ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
Abdelghaffar TY 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
Mutation analysis of Taiwanese Wilson disease patients.
Wan L et al.
Biochemical and Biophysical Research Communications, 2006
Six novel ATP7B mutations in Thai patients with Wilson disease.
Panichareon B et al.
European Journal of Medical Genetics, 0
Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
El-Mougy FA et al.
Arab Journal of Gastroenterology : the Official Publication of the Pan-arab Association of Gastroenterology, 0