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Article

Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.

Chinese medical journal - 1 Jun 2002

Liu Li, Chen Haoming, Liu Mugen, Jin Lei, Wei Yong, Wu Xuejun, Liu Youe, Xhu Renyuan, Chai Jianhua

Abstract excerpt

OBJECTIVE: To detect mutations of the retinitis pigmentosa GTPase regulator (RPGR) gene in two Chinese X-linked retinitis pigmentosa families. METHODS: Fragments of exons 1-19 of the RPGR gene were amplified with intronic primers, using genomic DNA as template. The polymerase chain reaction (PCR) products were analysed by single-strand conformation polymorphism (SSCP) and direct sequencing. Mutations were...

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Source

Identifiers

PMID: 12123547

Genes

RPGR

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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