Article
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
Investigative ophthalmology & visual science - 1 Aug 2005
Miyamoto Tatsuro, Inoue Hiroshi, Sakamoto Yukiko, Kudo Eiji, Naito Takeshi, Mikawa Takako, Mikawa Yoichi, Isashiki Yasushi, Osabe Dai, Shinohara Shuichi, Shiota Hiroshi, Itakura Mitsuo
Abstract excerpt
PURPOSE: To investigate the genetic basis and clinical variability of Wagner syndrome, a rare, dominantly inherited vitreoretinopathy. METHODS: Clinical examination, linkage analysis, and mutational screening were performed in a large, three-generation, consanguineous Japanese family with Wagner syndrome. The effect of splice site mutation was assessed by reverse transcriptase-polymerase chain reaction (RT-PCR)...
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