Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
利用VAAST基因检测鉴定出一种X连锁遗传疾病,该疾病由于N端乙酰转移酶缺乏而导致男性婴儿死亡。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.05.017
Rope, Alan F; Wang, Kai; Evjenth, Rune; Xing, Jinchuan; Johnston, Jennifer J; Swensen, Jeffrey J; Johnson, W Evan; Moore, Barry; Huff, Chad D; Bird, Lynne M; Carey, John C; Opitz, John M; Stevens, Cathy A; Jiang, Tao; Schank, Christa; Fain, Heidi Deborah; Robison, Reid; Dalley, Brian; Chin, Steven; South, Sarah T; Pysher, Theodore J; Jorde, Lynn B; Hakonarson, Hakon; Lillehaug, Johan R; Biesecker, Leslie G; Yandell, Mark; Arnesen, Thomas; Lyon, Gholson J