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Article

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.

Scientific reports - 25 Nov 2016

Zhong Zilin, Yan Ming, Sun Wan, Wu Zehua, Han Liyun, Zhou Zheng, Zheng Fang, Chen Jianjun

Abstract excerpt

Retinitis pigmentosa (RP) is a heterogeneous set of hereditary eye diseases, characterized by selective death of photoreceptor cells in the retina, resulting in progressive visual impairment. Approximately 20-40% of RP cases are autosomal dominant RP (ADRP). In this study, a Chinese ADRP family previously localized to the region between D1S2819 and D1S2635 was sequenced via whole-exome sequencing and a variant...

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Identifiers

PMID: 27886254
DOI: 10.1038/srep37840
PMCID: PMC5122955

Genes

PRPF3

Variants

Provenance

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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