Article
[Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2022
Luo Ping, Liu Qiuyan, Xing Xuesha, Liu Qi, Luo Yang
Abstract excerpt
OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis. METHODS: Clinical data of the pedigree was collected. Following DNA extraction, PCR and Sanger sequencing were carried out to detect potential variant in the RS1 gene. The result was verified by using PCR and restriction fragment length polymorphism assay. RESULTS: All male patients were found to harbor a c.458T>G...
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