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Identification of a novelADARmutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH)

โœ Scribed by Qinghe Xing; Mingtai Wang; Xiangdong Chen; Xueqing Qian; Wei Qin; Jianjun Gao; Shengnan Wu; Rui Gao; Guoyin Feng; Lin He

Publisher
Springer-Verlag
Year
2005
Tongue
English
Weight
303 KB
Volume
297
Category
Article
ISSN
0340-3696

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๐Ÿ“œ SIMILAR VOLUMES

Seven novel mutations of the ADAR gene i
Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)
โœ Xue-Jun Zhang; Ping-Ping He; Ming Li; Chun-Di He; Kai-Lin Yan; Yong Cui; Sen Yan ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 505 KB

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