Associated Papers
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
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
Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.
Hočevar K et al.
Frontiers in Pharmacology, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
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
Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
Liu Y et al.
Archives of Medical Research, 2015
The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.
Dastsooz H et al.
Archives of Iranian Medicine, 2014
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
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
Dastsooz H et al.
Gene, 2013
KMD: Korean Mutation Database for genes related to diseases.
Park MH et al.
Human Mutation, 2012
Genotype-phenotype correlation in Italian children with Wilson's disease.
Nicastro E et al.
Journal of Hepatology, 2009
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
[A korean family with Wilson disease occurred in two consecutive generations.].
Choi JS et al.
The Korean Journal of Laboratory Medicine, 2006
Wilson's disease: a patient undiagnosed for 18 years.
Mak CM et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2006
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Okada T et al.
Human Mutation, 2000
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
Kim EK et al.
Human Mutation, 1998