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Article

[A novel rhodopsin E341ter mutation in patients with retinitis pigmentosa and corresponding clinical phenotype].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Apr 2002

Xiong Shihong, Zhao Kanxing, Wang Li, Wang Lejin, Cui Yun, Chen Weiying, Wang Liming, Wang Qing

Abstract excerpt

OBJECTIVE: To detect rhodopsin (RHO) mutation in Chinese families with autosomal dominant retinitis pigmentosa (ADRP) and study on the association of RHO gene mutations with clinical phenotype. METHODS: Twenty-seven members from 13 Chinese families with ADRP and 30 normal subjects were recruited. The complete coding regions of the rhodopsin gene were amplified with polymerase chain reaction (PCR) and then DNA...

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Source

Identifiers

PMID: 12133392

Genes

RHO
ERG

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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