Associated Papers
Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.
Ovchinnikova EV et al.
International Journal of Molecular Sciences, 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
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
31059521 (PubMed )
Supplement: pone.0215779.s001.pdf
Phenotypes and Chronic Organ Damage May Be Different among Siblings with Wilson's Disease.
Yahata S et al.
Journal of Clinical and Translational Hepatology, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
Usta J et al.
Plos One, 2014
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
Hofer H et al.
Journal of Human Genetics, 2012
A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.
Gupta A et al.
Behavioral and Brain Functions : Bbf, 2010
Genotype-phenotype correlation in Italian children with Wilson's disease.
Nicastro E et al.
Journal of Hepatology, 2009
From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia.
Krumina A et al.
Genetika, 2008
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
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
Gupta A et al.
Cellular and Molecular Neurobiology, 2007
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
Gupta A et al.
Human Genetics, 2005
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu YH et al.
Clinical Genetics, 2003
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