Article
Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis.
Scientific reports - 7 Apr 2016
Wang Jiuxiang, Liu Ying, Liu Fei, Huang Changzheng, Han Shanshan, Lv Yuexia, Liu Chun-Jie, Zhang Su, Qin Yayun, Ling Lei, Gao Meng, Yu Shanshan, Li Chang, Huang Mi, Liao Shengjie, Hu Xuebin, Lu Zhaojing, Liu Xiliang, Jiang Tao, Tang Zhaohui, Zhang Huiping, Guo An-Yuan, Liu Mugen
Abstract excerpt
Disseminated superficial porokeratosis (DSP) is a rare keratinization disorder of the epidermis. It is characterized by keratotic lesions with an atrophic center encircled by a prominent peripheral ridge. We investigated the genetic basis of DSP in two five-generation Chinese families with members diagnosed with DSP. By whole-exome sequencing, we sequencing identified a nonsense variation c.412C > T (p.Arg138*)...
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