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J Invest Dermatol. 2007 Feb;127(2):309-11. Epub 2006 Aug 17.

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

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  • 1Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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.

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