Article
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria.
Clinical and experimental dermatology - 1 Oct 2011
Liu H, Fu X-A, Yu Y-X, Yu G-Q, Yan X-X, Liu H-X, Tian H-Q, Zhang F-R
Abstract excerpt
Dyschromatosis symmetrica hereditaria (DSH) is a rare, autosomal dominant dermatosis, characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsa of the hands and feet. The DSH locus has been mapped to chromosome 1q21, and in 2003, pathogenic mutations were identified in the ADAR1 (adenosine deaminase acting on RNA1) gene. In this study, we performed mutation detection of the ADAR1 gene in...
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