Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
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
Acute liver failure with hemolytic anemia in children with Wilson's disease: Genotype-phenotype correlations?
Pop TL et al.
World Journal of Hepatology, 2021
WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.
Kumar M et al.
Scientific Reports, 2020
Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes.
Li J et al.
Diabetes Care, 2020
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.
Chen YC et al.
Parkinsonism & Related Disorders, 2019
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
Barada K et al.
World Journal of Gastroenterology, 2017
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
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
Usta J et al.
Jimd Reports, 2012
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
Folhoffer A et al.
European Journal of Gastroenterology & Hepatology, 2007
[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].
Folhoffer A et al.
Orvosi Hetilap, 2003
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