Associated Papers
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.
Nagral A et al.
Indian Journal of Pediatrics, 2023
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
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
30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla SR et al.
Gene, 2015
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Lepori MB et al.
Molecular and Cellular Probes, 2012
A Case of Wilson's Disease in Patient with Mildly Elevated Liver Enzymes.
Cho YH et al.
Korean Journal of Family Medicine, 2011
Nuances in ATP7B Genetic Testing and Interpretation in India.
Mishra AK et al.
Journal of Clinical and Experimental Hepatology, 0
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