Article
Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.
Archives of dermatological research - 1 Apr 2008
Ma Yue-Mei, Zhang Xue-Jun, Liang Yan-Hua, Ma Lie, Sun Liang-Dan, Zhou Fu-Sheng, Fang Qiao-Yun, Gao Min, Yang Sen, Li Yu-Zhen
Abstract excerpt
Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder characterized by recurrent eruption of vesicles and bullae at the sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene encoding the human secretory pathway calcium ATPase 1 (hSPCA1) have been identified as the causative mutations in HHD. In this study, we used direct sequencing and restriction endonuclease digestion to...
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