article_metadata: Guoyan Mo Qin Ding Zhongshan Chen Yunbo Li Ming Yan Lijing Bu Yanping Song Guohua Yin
article_metadata: 10.1371/journal.pone.0112400
article_metadata: PLoS One
article_metadata: 2014 Nov 10;9(11):e112400.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25383945/
article_metadata: Asian People / genetics Leber Congenital Amaurosis / genetics Leber Congenital Amaurosis / pathology Polymorphism, Single Nucleotide cis-trans-Isomerases / genetics
article_metadata: 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
article_metadata: PMC4226570
article_metadata: 25383945
article_metadata: A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro
article_metadata: 2014