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Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

by: Sheng-Quan Zhang, Tao Jiang, Min Li, Xin Zhang, Yun-Qing Ren, Sheng-Cai Wei, Liang-Dan Sun, Hui Cheng, Yang Li, Xian-Yong Yin, Zheng-Mao Hu, Zhen-Ying Wang, Yuan Liu, Bi-Rong Guo, Hua-Yang Tang, Xian-Fa Tang, Yan-Tao Ding, Jian-Bo Wang, Ping Li, Bao-Yu Wu, Wen Wang, Xiang-Feng Yuan, Jun-Sheng Hou, Wei-Wei Ha, Wen-Ju Wang, Yu-Juan Zhai, Jing Wang, Fang-Fang Qian, Fu-Sheng Zhou, Gang Chen, Xian-Bo Zuo, Xiao-Dong Zheng, Yu-Jun Sheng, Jin-Ping Gao, Bo Liang, Pan Li, Jun Zhu, Feng-Li Xiao, Pei-Guang Wang, Yong Cui, Hui Li, Sheng-Xiu Liu, Min Gao, Xing Fan, Song-Ke Shen, Ming Zeng, Guang-Qing Sun, Yu Xu, Jing-Chu Hu, Ting-Ting He, Ying-Rui Li, Huan-Ming Yang, Jian Wang, Zhong-Yi Yu, Hui-Feng Zhang, Xin Hu, Ke Yang, Jie Wang, Shi-Xiang Zhao, You-Wen Zhou, Jian-Jun Liu, Wei-Dong Du, Li Zhang, Kun Xia, Sen Yang, Jun Wang, Xue-Jun Zhang
Nat Genet, Vol. 44, No. 10. (16 October 2012), pp. 1156-1160, doi:10.1038/ng.2409  Key: citeulike:11340185

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Abstract

Xue-Jun Zhang, Jun Wang and colleagues identify mutations in MVK in disseminated superficial actinic porokeratosis, a disorder characterized by defects in epidermal keratinization. MVK encodes mevalonate kinase, an enzyme involved in the biosynthesis of cholesterol and isoprenoids.


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