Ontology highlight
ABSTRACT:
SUBMITTER: Huang H
PROVIDER: S-EPMC5894961 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Huang Hui H Chen Yanhua Y Chen Huishuang H Ma Yuanyuan Y Chiang Pei-Wen PW Zhong Jing J Liu Xuyang X Asan Wu Jing J Su Yan Y Li Xin X Deng Jianlian J Huang Yingping Y Zhang Xinxin X Li Yang Y Fan Ning N Wang Ying Y Tang Lihui L Shen Jinting J Chen Meiyan M Zhang Xiuqing X Te Deng D Banerjee Santasree S Liu Hui H Qi Ming M Yi Xin X
PloS one 20180411 4
<h4>Background</h4>Inherited eye diseases are major causes of vision loss in both children and adults. Inherited eye diseases are characterized by clinical variability and pronounced genetic heterogeneity. Genetic testing may provide an accurate diagnosis for ophthalmic genetic disorders and allow gene therapy for specific diseases.<h4>Methods</h4>A targeted gene capture panel was designed to capture exons of 283 inherited eye disease genes including 58 known causative retinitis pigmentosa (RP) ...[more]