Associated Papers
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.
Zhou X et al.
Frontiers in Genetics, 2020
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Kumari N et al.
Human Mutation, 2018
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
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
Clinical and genetic analysis of pediatric patients with Wilson disease.
Şimşek Papur Ö et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2015
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z et al.
Neuroreport, 2014
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O et al.
European Journal of Medical Genetics, 2013
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
Zali N et al.
Hepatitis Monthly, 2011
Clinical molecular diagnosis of Wilson disease.
Bennett J et al.
Seminars in Liver Disease, 2011
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Luoma LM et al.
Human Mutation, 2010
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
Davies LP et al.
Genetic Testing, 2008
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
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
Kumar S et al.
Clinical Genetics, 2005
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.
Caca K et al.
Journal of Hepatology, 2001
Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples.
Olsson C et al.
European Journal of Human Genetics : Ejhg, 2000
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
Haas R et al.
Human Mutation, 1999
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
Six novel ATP7B mutations in Thai patients with Wilson disease.
Panichareon B et al.
European Journal of Medical Genetics, 0