Article
Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).
Human mutation - 1 Jun 2004
Zhang Xue-Jun, He Ping-Ping, Li Ming, He Chun-Di, Yan Kai-Lin, Cui Yong, Yang Sen, Zhang Kai-Yue, Gao Min, Chen Jian-Jun, Li Cheng-Rang, Jin Lin, Chen Hong-Duo, Xu Shi-Jie, Huang Wei
Abstract excerpt
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 reported clinical and molecular findings of 6 Chinese multi-generation families and 2 sporadic patients with DSH. We found...
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