Article
Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria.
The Journal of investigative dermatology - 1 Feb 2007
Suzuki Noriyuki, Suzuki Tamio, Inagaki Katsuhiko, Ito Shiro, Kono Michihiro, Horikawa Tatsuya, Fujiwara Sakuhei, Ishiko Akira, Matsunaga Kayoko, Aoyama Yumi, Tosaki-Ichikawa Hiroko, Tomita Yasushi
Abstract excerpt
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374,...
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