| Literature DB >> 16917490 |
Noriyuki Suzuki1, Tamio Suzuki, Katsuhiko Inagaki, Shiro Ito, Michihiro Kono, Tatsuya Horikawa, Sakuhei Fujiwara, Akira Ishiko, Kayoko Matsunaga, Yumi Aoyama, Hiroko Tosaki-Ichikawa, Yasushi Tomita.
Abstract
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, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.Entities:
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Year: 2006 PMID： 16917490 DOI： 10.1038/sj.jid.5700528
Source DB: PubMed Journal: J Invest Dermatol ISSN： 0022-202X Impact factor: 8.551