Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Shijie ZhangWenming YangXiang LiPei PeiTing DongYue YangJing Zhang

Published in: Translational neurodegeneration (2022)

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.

Keyphrases

copy number
smoking cessation
dna methylation
combination therapy
hepatitis c virus