Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
ARHGAP31(一种Cdc42/Rac1 GTP酶调节因子)的功能获得性突变会导致综合征性皮肤发育不全和肢体畸形。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.04.013
Southgate, Laura; Machado, Rajiv D; Snape, Katie M; Primeau, Martin; Dafou, Dimitra; Ruddy, Deborah M; Branney, Peter A; Fisher, Malcolm; Lee, Grace J; Simpson, Michael A; He, Yi; Bradshaw, Teisha Y; Blaumeiser, Bettina; Winship, William S; Reardon, Willie; Maher, Eamonn R; FitzPatrick, David R; Wuyts, Wim; Zenker, Martin; Lamarche-Vane, Nathalie; Trembath, Richard C