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[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2002

Zhang Xiaoli, Yeung Kwun-Yan, Pang Chi-Pui, Fu Weiling

Abstract excerpt

OBJECTIVE: To investigate the frequency and pattern of RP1 point mutations in Chinese retinitis pigmentosa (RP) patients and to examine their effects on the development of RP. METHODS: Conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing were used to determine sequence alterations occurring in the entire coding region of the RP1 gene in 101 Chinese RP patients in Hong Kong. RESULTS: R677X...

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PMID: 12048676

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