Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis

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 d...

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Udgivet i:Sci Rep
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4823745/
https://ncbi.nlm.nih.gov/pubmed/27052676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep24226
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