Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease
编码蛋白O-岩藻糖基转移酶1的POFUT1基因突变会导致全身性道林-德戈斯病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.04.022
Li, Ming; Cheng, Ruhong; Liang, Jianying; Yan, Heng; Zhang, Hui; Yang, Lijia; Li, Chengrang; Jiao, Qingqing; Lu, Zhiyong; He, Jianhui; Ji, Jin; Shen, Zhu; Li, Chunqi; Hao, Fei; Yu, Hong; Yao, Zhirong
