Article
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.
The Journal of investigative dermatology - 1 Jun 2005
Suzuki Noriyuki, Suzuki Tamio, Inagaki Katsuhiko, Ito Shiro, Kono Michihiro, Fukai Kazuyoshi, Takama Hiromichi, Sato Kenji, Ishikawa Osamu, Abe Masatoshi, Shimizu Hiroshi, Kawai Masaaki, Horikawa Tatsuya, Yoshida Kunihiro, Matsumoto Kazuhiko, Terui Tadashi, Tsujioka Kaoru, Tomita Yasushi
Abstract excerpt
Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance. We have clarified for the first time four pathological mutations of the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) in four DSH pedigrees. In this paper, we report 16 novel mutations containing six missense substitutions...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.