Article
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
Journal of human genetics - 1 Sept 2014
Zhao Yang, Hosono Katsuhiro, Suto Kimiko, Ishigami Chie, Arai Yuuki, Hikoya Akiko, Hirami Yasuhiko, Ohtsubo Masafumi, Ueno Shinji, Terasaki Hiroko, Sato Miho, Nakanishi Hiroshi, Endo Shiori, Mizuta Kunihiro, Mineta Hiroyuki, Kondo Mineo, Takahashi Masayo, Minoshima Shinsei, Hotta Yoshihiro
Abstract excerpt
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease. The USH2A gene, which accounts for approximately 74-90% of Usher syndrome type 2 (USH2) cases, is also one of the major autosomal recessive RP (arRP) causative genes among Caucasian populations. To identify disease-causing USH2A gene mutations in Japanese RP patients, all 73 exons were screened for mutations by direct sequencing. In total, 100...
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