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
40980162 (PubMed )
Supplement: mmc1.pdf
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 2024
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
Bem RS et al.
Arquivos De Neuro-psiquiatria, 2013
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
Zappu A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
Deguti MM et al.
Human Mutation, 2004
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
Loudianos G et al.
Human Mutation, 1999
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Loudianos G et al.
Human Mutation, 1998
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