A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma
ACTG1基因中反复出现的新生突变会导致孤立性眼部缺损。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23246
Rainger, Joe; Williamson, Kathleen A; Soares, Dinesh C; Truch, Julia; Kurian, Dominic; Gillessen-Kaesbach, Gabriele; Seawright, Anne; Prendergast, James; Halachev, Mihail; Wheeler, Ann; McTeir, Lynn; Gill, Andrew C; van Heyningen, Veronica; Davey, Megan G; FitzPatrick, David R