Article
A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China.
Pediatric neurology - 1 Aug 2023
Xue Ziru, Chen Hongyu, Yu Lan, Jiang Peifang
Abstract excerpt
BACKGROUND: Wilson disease (WD) is a hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene. There are more than 1000 pathogenic variants identified in ATP7B. R778L is the most common ATP7B mutation in China. METHODS: To estimate whether R778L is associated with the onset age of WD and other clinical variables. Genotyping results of ATP7B gene were collected in our 22 patients with WD. We...
Topics
- Humans
- Ceruloplasmin
- China
- Copper-Transporting ATPases
- Hepatolenticular Degeneration
- Mutation