Associated Papers
Unprecedented coexistence of Dent's disease type 1 and Wilson's disease in a two-year-old Chinese boy: implications for precision medicine.
Mao Q et al.
Bmc Nephrology, 2025
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
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
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
35079019 (PubMed )
Supplement: 41525_2021_280_MOESM1_ESM.pdf
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
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 and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
33763395 (PubMed )
Supplement: Data_Sheet_1.PDF
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
31059521 (PubMed )
Supplement: pone.0215779.s001.pdf
Clinical features and outcome in patients with osseomuscular type of Wilson's disease.
Yu H et al.
Bmc Neurology, 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
Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
Geng J et al.
World Journal of Pediatrics : Wjp, 2013
EGFP tags affect cellular localization of ATP7B mutants.
Zhu M et al.
Cns Neuroscience & Therapeutics, 2013
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