Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria

Noriyuki Suzuki, Tamio Suzuki, Katsuhiko Inagaki, Shiro Ito, Michihiro Kono, Tatsuya Horikawa, Sakuhei Fujiwara, Akira Ishiko, Kayoko Matsunaga, Yumi Aoyama, Hiroko Tosaki-Ichikawa, Yasushi Tomita

研究成果: Article査読

32 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)309-311
ページ数3
ジャーナルJournal of Investigative Dermatology
127
2
DOI
出版ステータスPublished - 02-2007

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 皮膚病学
  • 細胞生物学

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