Article
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
PloS one - 1 Jan 2012
Hosono Katsuhiro, Ishigami Chie, Takahashi Masayo, Park Dong Ho, Hirami Yasuhiko, Nakanishi Hiroshi, Ueno Shinji, Yokoi Tadashi, Hikoya Akiko, Fujita Taichi, Zhao Yang, Nishina Sachiko, Shin Jae Pil, Kim In Taek, Yamamoto Shuichi, Azuma Noriyuki, Terasaki Hiroko, Sato Miho, Kondo Mineo, Minoshima Shinsei, Hotta Yoshihiro
Abstract excerpt
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal recessive (ar), autosomal dominant (ad), and X-linked inheritance. Recently, arRP has been associated with mutations in EYS (Eyes shut homolog), which is a major causative gene for this disease. This study was conducted to determine the spectrum and frequency of EYS mutations in 100 Japanese arRP patients. To determine the...
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