Identification and characterization of a missense mutation in the O-linked β- N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability
鉴定并表征了O-连接β-N-乙酰氨基葡萄糖(O-GlcNAc)转移酶基因中的错义突变,该突变与X连锁智力障碍共分离
期刊:Journal of Biological Chemistry
影响因子:4
doi:10.1074/jbc.M116.771030
Krithika Vaidyanathan ,Tejasvi Niranjan ,Nithya Selvan ,Chin Fen Teo ,Melanie May ,Sneha Patel ,Brent Weatherly ,Cindy Skinner ,John Opitz ,John Carey ,David Viskochil ,Jozef Gecz ,Marie Shaw ,Yunhui Peng ,Emil Alexov ,Tao Wang ,Charles Schwartz ,Lance Wells