本文构建 Atp7b R780L 敲入小鼠模型，探究 AAV8-ΔC4ATP7B 基因疗法对 Wilson 病的疗效与安全性。 一、引言 Wilson 病（WD；OMIM 277900）是一种常染色体隐性遗传疾病，由铜转运 ATP 酶 β（ATP7B）基因突变引起。ATP7B基因突变导致 ATP7B 蛋白缺乏，使得铜（Cu）在肝脏、大脑 ...

Our previous and current studies have utilized a mouse model for Wilson’s disease (Atp7b-/-mouse). Wilson’s disease results from mutations in the Atp7b transporter, which leads to excessive hepatic ...