Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
人类动力蛋白2纯合突变导致致命性先天综合征
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2012.226
Koutsopoulos, Olga S; Kretz, Christine; Weller, Claudia M; Roux, Aurelien; Mojzisova, Halina; Böhm, Johann; Koch, Catherine; Toussaint, Anne; Heckel, Emilie; Stemkens, Daphne; Ter Horst, Simone A J; Thibault, Christelle; Koch, Muriel; Mehdi, Syed Q; Bijlsma, Emilia K; Mandel, Jean-Louis; Vermot, Julien; Laporte, Jocelyn