Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis - 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; et al. (Scientific reports, 2016)
Keywords: 13/109; 13/2; 13/51; 14/1; 14/19; 38/109; 45; 631/337; 692/308/2056; 82; 82/51; 82/83; Adolescent; Adult; Apoptosis; Asian People - genetics; Base Sequence; Cell Line; Child; Child, Preschool; China; DNA Mutational Analysis; Epidermis; Family Health; Female; Genes, Dominant; Genetic Predisposition to Disease - ethnology; Genetic Predisposition to Disease - genetics; Genetic variance; Haplotypes; Humanities and Social Sciences; Humans; Keratinization; Keratinocytes; Localization; Male; Mevalonate pathway; Mevalonic acid; Microscopy, Confocal; multidisciplinary; Mutation; Pedigree; Phosphomevalonate kinase; Phosphotransferases (Phosphate Group Acceptor) - genetics; Phosphotransferases (Phosphate Group Acceptor) - metabolism; Porokeratosis - enzymology; Porokeratosis - ethnology; Porokeratosis - genetics; Science; Science (multidisciplinary); Young Adult; China