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Article

Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.

Molecular vision - 1 Jan 2022

Shen Chang, You Bing, Chen Yu-Ning, Li Yang, Li Wei, Wei Wen-Bin

Abstract excerpt

Purpose: Retinitis pigmentosa (RP) is a group of highly heterogenetic inherited retinal degeneration diseases. Molecular genetic diagnosis of RP is quite challenging because of the complicated disease-causing mutation spectrum. The aim of this study was to explore the mutation spectrum in Chinese RP patients using next-generation sequencing technology and to explore the genotype-phenotype relationship. Method: In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35814500
PMCID: PMC9239900

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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