Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
全外显子组重测序揭示了 CAKUT 和 VACTERL 关联的个体中 TRAP1 的隐性突变
期刊:Kidney International
影响因子:14.8
doi:10.1038/ki.2013.417
Pawaree Saisawat, Stefan Kohl, Alina C Hilger, Daw-Yang Hwang, Heon Yung Gee, Gabriel C Dworschak, Velibor Tasic, Tracie Pennimpede, Sivakumar Natarajan, Ethan Sperry, Danilo S Matassa, Nataša Stajić, Radovan Bogdanovic, Ivo de Blaauw, Carlo L M Marcelis, Charlotte H W Wijers, Enrika Bartels, Eberha
