Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
影响单体驱动蛋白 KIF22 运动域中两个相邻残基的复发性显性突变导致骨骼发育不良和关节松弛
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.10.016
Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L Cameron, Philippe Suarez, Goranka Tanackovic, Generoso Andria, Diana Ballhausen, Michael D Briggs, Claire Hartley, Daniel H Cohn, H Rosemarie Davidson, Christine Hall, Shiro Ikegawa, Pierre-Simon Jouk, Rainer König, André Megarba
