Guoyan Mo Qin Ding Zhongshan Chen Yunbo Li Ming Yan Lijing Bu Yanping Song Guohua Yin
10.1371/journal.pone.0112400
PLoS One
2014 Nov 10;9(11):e112400.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25383945/
Asian People / genetics Leber Congenital Amaurosis / genetics Leber Congenital Amaurosis / pathology Polymorphism, Single Nucleotide cis-trans-Isomerases / genetics
Asian People / genetics Leber Congenital Amaurosis / genetics Leber Congenital Amaurosis / pathology Polymorphism, Single Nucleotide cis-trans-Isomerases / genetics Case Reports Research Support, U.S. Gov't, Non-P.H.S. Child China Female Genetic Association Studies HEK293 Cells Humans In Vitro Techniques Male Pedigree RNA, Messenger / metabolism Sequence Analysis, DNA RNA, Messenger retinoid isomerohydrolase cis-trans-Isomerases
PMC4226570
25383945
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro
2014