Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
斑马鱼外显子组测序和功能验证表明,GTDC2 基因突变是沃克-瓦尔堡综合征的病因。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.07.009
Manzini, M Chiara; Tambunan, Dimira E; Hill, R Sean; Yu, Tim W; Maynard, Thomas M; Heinzen, Erin L; Shianna, Kevin V; Stevens, Christine R; Partlow, Jennifer N; Barry, Brenda J; Rodriguez, Jacqueline; Gupta, Vandana A; Al-Qudah, Abdel-Karim; Eyaid, Wafaa M; Friedman, Jan M; Salih, Mustafa A; Clark, Robin; Moroni, Isabella; Mora, Marina; Beggs, Alan H; Gabriel, Stacey B; Walsh, Christopher A