Article
Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China.
Archives of dermatological research - 1 Jul 2006
Ren Yun-Qing, Gao Min, Liang Yan-Hua, Hou Yan-Xia, Wang Pei-Guang, Sun Liang-Dan, Xu Sheng-Xin, Li Wei, Du Wen-Hui, Zhou Fu-Sheng, Shen Yu-Jun, Yang Sen, Zhang Xue-Jun
Abstract excerpt
Darier's disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported three familial and two sporadic Chinese DD patients totally with four missense mutations (N767D, M494I, M494L, C318F) and...
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