Article
A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression.
Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) - 1 May 2020
Yang Dongzhi, Yao Qihui, Li Ya, Xu Yan, Wang Jun, Zhao Huiling, Liu Fuyong, Zhang Zhaojing, Liu Yang, Bie Xiaoshuai, Wang Yuanli, Xu Liyan, Luan Yingying, Yang Shangdong, Yang Ge, He Ying
Abstract excerpt
PURPOSE: A previous study reported a novel c.544_618del75bp mutation in exon 7 of the PRPF31 gene in a Chinese family with autosomal dominant retinal pigmentosa (ADRP). However, the selected pedigree was a small part of the whole family and the function of the c.544_618del75bp mutation was not explored deeply. The aim of the present study was to validate the previous results and explore the functional...
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