Associated Papers
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.
Garbuz M et al.
Biomedicines, 2024
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
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
Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population.
Garbuz MM et al.
Genes, 2022
The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.
Balashova MS et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2020
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Currently Clinical Views on Genetics of Wilson's Disease.
Chen C et al.
Chinese Medical Journal, 2015
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
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
Diverse functional properties of Wilson disease ATP7B variants.
Huster D et al.
Gastroenterology, 2012
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
Gojová L et al.
Clinical Genetics, 2008
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
Hsi G et al.
Human Mutation, 2008
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
Leggio L et al.
Digestive Diseases and Sciences, 2007
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
Folhoffer A et al.
European Journal of Gastroenterology & Hepatology, 2007
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Lepori MB et al.
Genetic Testing, 2007
[A korean family with Wilson disease occurred in two consecutive generations.].
Choi JS et al.
The Korean Journal of Laboratory Medicine, 2006
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Ferenci P
Human Genetics, 2006
A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia.
Leggio L et al.
Digestive Diseases and Sciences, 2006
[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].
Folhoffer A et al.
Orvosi Hetilap, 2003
A study of Wilson disease mutations in Britain.
Curtis D et al.
Human Mutation, 1999
[Genomic structure and DNA diagnosis of hereditary monogenic diseases in the Volga-Ural region].
Khidiiatova IM et al.
Molekuliarnaia Biologiia, 0
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Vrabelova S et al.
Molecular Genetics and Metabolism, 0