Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.

Feng-Juan GaoDan-Dan WangFang ChenHao-Xiang SunFang-Yuan HuPing XuJiankang LiWei LiuYu-He QiWei LiMing WangShenghai ZhangGe-Zhi XuQing ChangJi-Hong Wu

Published in: The British journal of ophthalmology (2020)

This study provides detailed clinical-genetic assessment of patients with USH2A mutations of Chinese origin, enabling precise genetic diagnoses, better management of these patients and putative therapeutic approaches.

Keyphrases

genome wide
end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
risk factors
peritoneal dialysis
prognostic factors
gene expression
patient reported outcomes