Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology
利用全外显子组测序研究病因不明的溶酶体贮积症的遗传基础
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23291
Wang, Nan; Zhang, Yeting; Gedvilaite, Erika; Loh, Jui Wan; Lin, Timothy; Liu, Xiuping; Liu, Chang-Gong; Kumar, Dibyendu; Donnelly, Robert; Raymond, Kimiyo; Schuchman, Edward H; Sleat, David E; Lobel, Peter; Xing, Jinchuan