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Article

Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jun 2009

Lim King Poo, Yip Shea Ping, Cheung Suk Chun, Leung Kam Wah, Lam Stephen T S, To Chi Ho

Abstract excerpt

OBJECTIVE: To screen mutations in the PRPF31, RHO, and PRPH2 genes in Chinese patients with retinitis pigmentosa (RP). METHODS: Patients with RP were recruited from Retina Hong Kong. All the exons of the PRPF31, RHO, and PRPH2 genes were amplified and screened for mutations using single-stranded conformation polymorphism analysis followed by DNA sequencing. Frequencies of sequence changes were determined in...

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Source

Identifiers

PMID: 19506198
DOI: 10.1001/archophthalmol.2009.112

Genes

PRPF31
PRPH2
RHO

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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