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Article

Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing.

European journal of ophthalmology - 8 Nov 2017

Xiao Jianping, Guo Xueqin, Wang Yong, Shao Mingkun, Wei Xiaoming, Du Lique, Li Long, Sun Yan, Yang Yun

Abstract excerpt

PURPOSE: To identify disease-causing mutations in a Chinese patient with retinitis pigmentosa (RP). METHODS: A detailed clinical examination was performed on the proband. Targeted next-generation sequencing (NGS) combined with bioinformatics analysis was performed on the proband to detect candidate disease-causing mutations. Sanger sequencing was performed on all subjects to confirm the candidate mutations and...

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Source

Identifiers

PMID: 28430325
DOI: 10.5301/ejo.5000971

Genes

PRPF31

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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