Associated Papers
Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Jin Y et al.
Biomedicines, 2024
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
Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters.
Zhou J et al.
Frontiers in Genetics, 2022
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
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
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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
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
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
Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.
Abuduxikuer K et al.
Plos One, 2014
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
Wang LH et al.
Journal of Human Genetics, 2011
[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].
Meng Y et al.
Zhonghua Yi Xue Za Zhi, 2010
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