Article
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.
Journal of medical genetics - 1 Oct 2014
Cui Hongzhou, Li Longnian, Wang Wenjun, Shen Jie, Yue Zhen, Zheng Xiaodong, Zuo Xianbo, Liang Bo, Gao Min, Fan Xing, Yin Xianyong, Shen Changbing, Yang Chao, Zhang Change, Zhang Xiaoguang, Sheng Yujun, Gao Jinping, Zhu Zhengwei, Lin Da, Zhang Anping, Wang Zaixing, Liu Shengxiu, Sun Liangdan, Yang Sen, Cui Yong, Zhang Xuejun
Abstract excerpt
BACKGROUND: Disseminated superficial actinic porokeratosis (DSAP) is a rare autosomal dominant genodermatosis characterised by annular lesions that has an atrophic centre and a prominent peripheral ridge distributed on sun exposed area. It exhibits high heterogeneity, and five linkage loci have been reported. The mevalonate kinase (MVK) gene located on 12q24 has been confirmed as one of the disease-causing genes....
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