Associated Papers
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
Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.
Zhang T et al.
Bmc Pediatrics, 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
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
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
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
Hypopituitarism in Wilson's disease resolved after copper-chelating therapy.
Dauth N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 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
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
Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.
Xiao H et al.
Digestion, 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 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
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
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
Gu S et al.
Plos One, 2013
Mutational analysis for Wilson's disease.
Seto WK et al.
Lancet (london, England), 2009
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