Associated Papers
Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.
Zhang T et al.
Bmc Pediatrics, 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
Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Huang C et al.
Journal of Clinical Laboratory Analysis, 2022
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
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.
Wang C et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2018
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
Cheng N et al.
Clinical 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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L et al.
Hepatology (baltimore, Md.), 2010
Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
Tsai CH et al.
Human Mutation, 1998
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