色素性视网膜炎
基因型
遗传学
生物
队列
先证者
人口
ABCA4型
医学
基因
突变
内科学
表型
环境卫生
作者
Brian Juin Hsien Lee,Yih Chung Tham,Tien‐En Tan,Yasmin Bylstra,Weng Khong Lim,Kanika Jain,Choi Mun Chan,Ranjana Mathur,Chui Ming Gemmy Cheung,Beau J. Fenner
标识
DOI:10.1080/13816810.2023.2182329
摘要
USH2A was the most commonly affected RP gene in this East Asian cohort, although sub-population analysis revealed distinct genotype prevalence patterns. While the genotypes are similar between East Asia and European cohorts, variants are specific to East Asia. The identification of several prevalent variants in USH2A and EYS provides an opportunity for the development of therapeutics that are relevant for East Asia patients.
科研通智能强力驱动
Strongly Powered by AbleSci AI