DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
通过全外显子组测序发现的DDOST突变与先天性糖基化障碍有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.12.024
Jones Melanie A, Ng Bobby G, Bhide Shruti, Chin Ephrem, Rhodenizer Devin, He Ping, Losfeld Marie-Estelle, He Miao, Raymond Kimiyo, Berry Gerard, Freeze Hudson H, Hegde Madhuri R