Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.

Feng-Juan GaoDan-Dan WangJian-Kang LiFang-Yuan HuPing XuFang ChenYu-He QiWei LiuWei LiSheng-Hai ZhangQing ChangGe-Zhi XuFeng-Juan Gao

Published in: Orphanet journal of rare diseases (2021)

This study provides a detailed clinical-genetic assessment of patients with RPE65 mutations of Chinese origin. These results may help to elucidate RPE65 mutations in the Chinese population and may facilitate genetic counseling and the implementation of gene therapy in China.

Keyphrases

gene therapy
genome wide
primary care
copy number
gene expression
quality improvement
dna methylation
men who have sex with men