Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
对 4293 个三联体外显子组数据的分析表明,GPI 锚定生物合成缺陷是发育障碍的罕见病因。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2017.32
Pagnamenta, Alistair T; Murakami, Yoshiko; Taylor, John M; Anzilotti, Consuelo; Howard, Malcolm F; Miller, Venessa; Johnson, Diana S; Tadros, Shereen; Mansour, Sahar; Temple, I Karen; Firth, Rachel; Rosser, Elisabeth; Harrison, Rachel E; Kerr, Bronwen; Popitsch, Niko; Kinoshita, Taroh; Taylor, Jenny C; Kini, Usha