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
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
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
Clinical and molecular characterization of Wilson disease in Spanish patients.
Brage A et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2007
A study of Wilson disease mutations in Britain.
Curtis D et al.
Human Mutation, 1999
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