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A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease |
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| Authors: | Heng Xiao Xiangjun Huang Hongbo Xu Xiang Chen Wei Xiong Zhijian Yang Xiong Deng Zhenghao He Hao Deng |
| Affiliation: | 1. Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China Department of Pathology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China;2. Department of General Surgery, The First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha, Hunan, China;3. Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China;4. Department of Dermatology, Xiangya Hospital, Central South University, Changsha, Hunan, China;5. Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Xiangya School of Medicine, Central South University, Changsha, Hunan, China |
| Abstract: | |
| Keywords: | ATP2C1 gene Hailey-Hailey disease (HHD) mutation analysis Sanger sequencing splice-site mutation |