Article
Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria.
Indian journal of dermatology, venereology and leprology - 1 Jan 2000
Hu Wei, Shi Xian, Li Hongwen, Chen Luzhu, Wang Tingmei, Dong Yingying, Zhang Yanhong, Hu Man, Liu Xiaoli, Zhang Caie, Liu Dongxian, Deng Yunhua
Abstract excerpt
BACKGROUND: Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). DSH patients display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities, and freckle-like macules on the face. AIMS: To provide new evidence for further study of the etiopathogenisis of DSH. METHODS: Genomic DNA was extracted...
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