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Article

Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.

Molecular genetics & genomic medicine - 1 Dec 2020

Cao Li, Peng Chunyan, Yu Jing, Jiang Wei, Yang Jiyun

Abstract excerpt

BACKGROUND: Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%-40% of cases, indicating that many novel pathogenic variations related to RP remain unidentified in many patients. In this study, our aim was to investigate the disease-causing variants and function of the variants in two...

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Source

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Identifiers

PMID: 33085829
DOI: 10.1002/mgg3.1537
PMCID: PMC7767543

Genes

PRPF31

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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