Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Wilson disease: 30-year data on epidemiology, clinical presentation, treatment modalities and disease outcomes from two tertiary Greek centers.
Tampaki M et al.
European Journal of Gastroenterology & Hepatology, 2020
Management of Wilson Disease Diagnosed in Infancy: An Appraisal of Available Experience to Generate Discussion.
Valentino PL et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
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 and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G et al.
Bmc Medical Genetics, 2018
29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
Zali N et al.
Hepatitis Monthly, 2011
Wilson disease in children: analysis of 57 cases.
Manolaki N et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
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
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
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
Kalinsky H et al.
Human Mutation, 1998
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
Shah AB et al.
American Journal of Human Genetics, 1997
Haplotype and mutation analysis in Greek patients with Wilson disease.
Loudianos G et al.
European Journal of Human Genetics : Ejhg, 0
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