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
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
40403485 (PubMed )
Supplement: mmc2.xlsx › Actionable_findings
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort
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
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Zhu HW et al.
World Journal of Pediatrics : Wjp, 2017
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
Merle U et al.
Bmc Gastroenterology, 2010
Wilson disease in children: analysis of 57 cases.
Manolaki N et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
Panagiotakaki E et al.
American Journal of Medical Genetics. Part A, 2004
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
Loudianos G et al.
Genetic Testing, 2000
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