Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.

Chenjun HuangMeng FangXiao XiaoZhiyuan GaoYing WangChunfang Gao

Published in: Journal of clinical laboratory analysis (2022)

The study revealed genetic defects of 16 Chinese families and two independent individuals with WD, which enriched the mutation spectrum of the ATP7B gene worldwide and provided valuable information for studying the mutation types of ATP7B in the Chinese populations. Genetic testing in WD patients is necessary to shorten the time to initiate therapy, reduce damage to the liver and improve the prognosis.

Keyphrases

genome wide
end stage renal disease
copy number
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
healthcare
stem cells
single cell
dna methylation
patient reported
mesenchymal stem cells
patient reported outcomes
cell therapy
case control
replacement therapy