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A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2005

Li Yang, Dong Bing, Hu Ai-lian, Cui Tong-tong, Zheng Yuan-yuan

Abstract excerpt

OBJECTIVE: To report a novel mutation in RPGR gene in a Chinese family with X-linked dominant retinitis pigmentosa(XLRP). METHODS: Genetic linkage analysis was performed on the known genetic loci for XLRP with a panel of polymorphic markers, then the mutations were identified by single-strand conformation polymorphism(SSCP) and direct sequencing. RESULTS: Significant two-point Lod score was generated using marker...

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Source

Identifiers

PMID: 16086276

Genes

RPGR

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

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