Article
Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.
Molecular vision - 1 Jan 2021
Zou Gang, Zhang Tao, Cheng Xuesen, Igelman Austin D, Wang Jun, Qian Xinye, Fu Shangyi, Wang Keqing, Koenekoop Robert K, Fishman Gerald A, Yang Paul, Li Yumei, Pennesi Mark E, Chen Rui
Abstract excerpt
Purpose: Despite the extensive use of next-generation sequencing (NGS) technology to identify disease-causing genomic variations, a major gap in our understanding of Mendelian diseases is the unidentified molecular lesion in a significant portion of patients. For inherited retinal degenerations (IRDs), although currently close to 300 disease-associated genes have been identified, the mutations in approximately...
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