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Article

Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.

American journal of medical genetics. Part A - 1 Sept 2003

Wang Lejin, Ribaudo Michael, Zhao Kanxing, Yu Ning, Chen Qiuyun, Sun Qiuxiang, Wang Liming, Wang Qing

Abstract excerpt

We report the identification of a novel 12 bp deletion of the pre-mRNA splicing gene PRPF31 in a large Chinese family with autosomal dominant retinitis pigmentosa (adRP). This mutation results in the deletion of four amino acids (DeltaH(111)K(112)F(113)I(114)) including H(111), an amino acid resi...

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Source

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Identifiers

PMID: 12923864
DOI: 10.1002/ajmg.a.20224
PMCID: PMC1579744

Genes

PRPF31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12923864-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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