Ontology highlight
ABSTRACT:
SUBMITTER: Xu M
PROVIDER: S-EPMC4565766 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Xu Mingchu M Yang Lizhu L Wang Feng F Li Huajin H Wang Xia X Wang Weichen W Ge Zhongqi Z Wang Keqing K Zhao Li L Li Hui H Li Yumei Y Sui Ruifang R Chen Rui R
Human genetics 20150728 10
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are two genetically heterogeneous retinal degenerative disorders. Despite the identification of a number of genes involved in LCA and RP, the genetic etiology remains unknown in many patients. In this study, we aimed to identify novel disease-causing genes of LCA and RP. Retinal capture sequencing was initially performed to screen mutations in known disease-causing genes in different cohorts of LCA and RP patients. For patients with ...[more]