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Article

Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing.

Investigative ophthalmology & visual science - 1 Dec 2017

Xiao Xiaoqiang, Cao Yingjie, Zhang Zhun, Xu Yanxuan, Zheng Yuqian, Chen Li Jia, Pang Chi Pui, Chen Haoyu

Abstract excerpt

Purpose: The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and function of mutations. Methods: We recruited RP families and sporadic RP patients, and performed whole-exome sequencing (WES) to screen for sequence variations. Subsequently, we investigated the expression of green fluorescent protein (GFP) merged expression vectors containing PRPF31 wild...

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Source

Identifiers

PMID: 29260190
DOI: 10.1167/iovs.17-22952

Genes

PRPF31

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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