Mutations in the NHEJ component XRCC4 cause primordial dwarfism
非同源末端连接 (NHEJ) 组分 XRCC4 的突变会导致原始侏儒症。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.01.013
Murray, Jennie E; van der Burg, Mirjam; IJspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller, Edward S; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih, Eissa A; Graham, Gail E; Ranza, Emmanuelle; Blundell, Tom L; Jackson, Andrew P; Stewart, Grant S; Bicknell, Louise S
