Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
Shijie Zhang, Wenming Yang, Xiang Li, Pei Pei, Ting Dong, Yue Yang +1 more
Translational Neurodegeneration
Abstract
Our work expanded the ATP7B variant spectrum and highlighted the differences among patients with WD in age-at-onset and ATP7B variants, which may provide some valuable insights into the diagnosis, counseling, and treatment of patients with WD.
Concepts
Missense mutationMedicineCohortNeurologyInternal medicineAge of onsetGenotypeAllele