Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients
S Li, L Huang, X Xiao, X Jia, X Guo… - JAMA …, 2014 - jamanetwork.com
Importance Mutations inCNGA3are the most common cause of achromatopsia and cone-rod
dystrophies. Objective To identifyCNGA3mutations in patients with cone dystrophies or
Leber congenital amaurosis. Design, Setting, and Participants Clinical data and genomic
DNA in 267 Chinese probands from 138 families with cone dystrophies and 129 families
with Leber congenital amaurosis collected at the Zhongshan Ophthalmic Center,
Guangzhou, China. Main Outcomes and Measures Variants inCNGA3and associated …
dystrophies. Objective To identifyCNGA3mutations in patients with cone dystrophies or
Leber congenital amaurosis. Design, Setting, and Participants Clinical data and genomic
DNA in 267 Chinese probands from 138 families with cone dystrophies and 129 families
with Leber congenital amaurosis collected at the Zhongshan Ophthalmic Center,
Guangzhou, China. Main Outcomes and Measures Variants inCNGA3and associated …