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[Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2013

Chu Yan, Fang Dong, Hou Qiao-fang, Wang Li-ya, Guo Xi-rang, Wang Ying-tai, Liao Shi-xiu

Abstract excerpt

OBJECTIVE: To identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families. METHODS: The 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing. RESULTS: Two RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.573delG, p.Pro192fs) and 1 missense mutation (c.626G>A, p.Arg209His)....

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PMID: 23568735
DOI: 10.3760/cma.j.issn.1003-9406.2013.04.017

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