Loss-of-function mutations in RAB18 cause Warburg micro syndrome
RAB18基因功能缺失突变会导致瓦尔堡微综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.03.012
Bem, Danai; Yoshimura, Shin-Ichiro; Nunes-Bastos, Ricardo; Bond, Frances C; Kurian, Manju A; Rahman, Fatima; Handley, Mark T W; Hadzhiev, Yavor; Masood, Imran; Straatman-Iwanowska, Ania A; Cullinane, Andrew R; McNeill, Alisdair; Pasha, Shanaz S; Kirby, Gail A; Foster, Katharine; Ahmed, Zubair; Morton, Jenny E; Williams, Denise; Graham, John M; Dobyns, William B; Burglen, Lydie; Ainsworth, John R; Gissen, Paul; Müller, Ferenc; Maher, Eamonn R; Barr, Francis A; Aligianis, Irene A
