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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Wilson's disease in Sardinian population: The experience of a pediatric referral center.
Loudianos G et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.
Hou H et al.
Frontiers in Genetics, 2022
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
Li X et al.
American Journal of Medical Genetics. Part A, 2019
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
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.
Nicastro E et al.
Hepatology (baltimore, Md.), 2010
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
Loudianos G et al.
Human Mutation, 2002
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