Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients
利用全外显子组测序结合RNA测序对台湾77例大疱性表皮松解症患者进行突变分析
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02605-1
Tu, Wei-Ting; Hou, Ping-Chen; Chen, Peng-Chieh; Chen, Wan-Rung; Huang, Hsin-Yu; Wang, Jing-Yu; Huang, Yi-Ting; Wu, Yi-Huei; Su, Chun-Lin; Tang, Yen-An; Iwata, Hiroaki; Natsuga, Ken; Chao, Sheau-Chiou; Sun, H Sunny; Tang, Ming-Jer; Lee, Julia Yu-Yun; McGrath, John A; Hsu, Chao-Kai
