Associated Papers
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
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
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A et al.
Life Science Alliance, 2023
36635046 (PubMed )
Supplement: LSA-2022-01673_TableS2.xlsx › Sheet1
Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity.
Im M et al.
Annals of Pediatric Endocrinology & Metabolism, 2022
Prevalence of Wilson disease based on genome databases in Japan.
Yamaguchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim M et al.
Parkinsonism & Related Disorders, 2020
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Shim JO et al.
Journal of Korean Medical Science, 2018
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G et al.
Bmc Medical Genetics, 2018
29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
Park S et al.
Human Mutation, 2007
Two families with Wilson disease in which siblings showed different phenotypes.
Takeshita Y et al.
Journal of Human Genetics, 2002
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
Kusuda Y et al.
Journal of Human Genetics, 2000
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Okada T et al.
Human Mutation, 2000
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