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Article

Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.

Current eye research - 1 Jan 2010

Ji Yanli, Wang Juan, Xiao Xueshan, Li Shiqiang, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

PURPOSE: To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP). MATERIALS AND METHODS: DNA fragments-encompassing coding exons and adjacent intronic regions of RPGR and RP2-were analyzed by cycle sequencing. RESULTS: Three mutations (ORF15 + 483_484delGA, ORF15 + 652_653delAG, and ORF15 + 650_653delAGAG) in RPGR were identified in four families with XLRP,...

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Source

Identifiers

PMID: 20021257
DOI: 10.3109/02713680903395299

Genes

RPGR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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