Associated Papers
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.
Wang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Ulcerative Colitis Preceding Asymptomatic Wilson's Disease: A Case Report and Literature Review.
Kunizaki J et al.
Gastro Hep Advances, 2025
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
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.
Fan SP et al.
Journal of Movement Disorders, 2023
Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.
Wang Y et al.
Frontiers in Genetics, 2023
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic Medicine, 2021
Prevalence of Wilson disease based on genome databases in Japan.
Yamaguchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory.
Poon KS et al.
Journal of Clinical Pathology, 2020
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Li X et al.
Human Mutation, 2019
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
Qian Z et al.
Molecular Genetics & Genomic Medicine, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
Cheng N et al.
Clinical Genetics, 2017
Phenotypes and Chronic Organ Damage May Be Different among Siblings with Wilson's Disease.
Yahata S et al.
Journal of Clinical and Translational Hepatology, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
Poon KS et al.
Clinical Biochemistry, 2016
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y et al.
Theranostics, 2016
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
Zong YN et al.
Genetics and Molecular Research : Gmr, 2015
Acute Hepatic Phenotype of Wilson Disease: Clinical Features of Acute Episodes and Chronic Lesions Remaining in Survivors.
Hayashi H et al.
Journal of Clinical and Translational Hepatology, 2015
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla SR et al.
Gene, 2015
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
Li K et al.
Journal of Human Genetics, 2013
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.
Zappu A et al.
Molecular and Cellular Probes, 2012
Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.
Tatsumi Y et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2011
Current state of Wilson disease patients in central Japan.
Tatsumi Y et al.
Internal Medicine (tokyo, Japan), 2010
Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.
Mak CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
Mak CM et al.
Journal of Human Genetics, 2008
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Ferenci P
Human Genetics, 2006
Compound overload of copper and iron in patients with Wilson's disease.
Hayashi H et al.
Medical Molecular Morphology, 2006
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu YH et al.
Clinical Genetics, 2003
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Okada T et al.
Human Mutation, 2000