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Two new mutations of theADAR1gene associated with dyschromatosis symmetrica hereditaria

✍ Scribed by Cheng-Rang Li; Xiu-Lian Xu; Xin-Jun Sun; Wen-Kai Zong; Nan Sheng; Jin Bu; Ming Li; Pan-Gen Cui

Publisher: Springer-Verlag
Year: 2010
Tongue: English
Weight: 388 KB
Volume: 302
Category: Article
ISSN: 0340-3696
DOI: 10.1007/s00403-010-1037-4

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Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we report