Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
外显子组和全基因组测序联合鉴定出 ARMC4 突变是原发性纤毛运动障碍的病因,该病因伴有外动力蛋白臂缺陷
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2013-101938
Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, Chela T James, Miriam Schmidts, Mitali Patel, Elisabeth M Rosser, Chiara Bacchelli, Philip L Beales, Peter J Scambler, Stephen L Hart, Jeannette E Danke-Roelse, John J Sloper, Sarah Hull, Claire Hogg, Richard D Emes, Gerard Pals, Anthony T Mo