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Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria

โœ Scribed by H. Liu; X.-A. Fu; Y.-X. Yu; G.-Q. Yu; X.-X. Yan; H.-X. Liu; H.-Q. Tian; F.-R. Zhang


Book ID
108696938
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
220 KB
Volume
36
Category
Article
ISSN
0307-6938

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Seven novel mutations of the ADAR gene i
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