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Article

[Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2003

Teng Yun, Tian Hong, Wang Hui, Hu Xiaofeng, Chen Yan, Yang Zhenrong, Wang Wei

Abstract excerpt

OBJECTIVE: To determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP). METHODS: Genomic DNA from four patients and 4 normal persons in the same pedigree suffering ADRP were extracted, and subsequently eight exons of three ADRP candidate genes were screened for mutations by a combined polymerase chain reaction-single strand conformation polymorphism and DNA...

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PMID: 12673590

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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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