Article
A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.
Human molecular genetics - 15 Jul 2018
Zhou Yu, Li Shujin, Huang Lulin, Yang Yeming, Zhang Lin, Yang Mu, Liu Wenjing, Ramasamy Kim, Jiang Zhilin, Sundaresan Periasamy, Zhu Xianjun, Yang Zhenglin
Abstract excerpt
Retinitis pigmentosa (RP) refers to a group of retinal degenerative diseases, which often lead to vision loss. Although 70 genes have been identified in RP patients, the genetic cause of approximately 30% of RP cases remains unknown. We aimed to identify the cause of the disease in a cohort of RP families by whole exome sequencing. A rare homozygous splicing variant, c.1160 + 1G>A, which introduced skipping of...
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