Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
内质网质量控制甘露糖苷酶基因EDEM3的双等位基因变异会导致先天性糖基化障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.05.010
Polla, Daniel L; Edmondson, Andrew C; Duvet, Sandrine; March, Michael E; Sousa, Ana Berta; Lehman, Anna; Niyazov, Dmitriy; van Dijk, Fleur; Demirdas, Serwet; van Slegtenhorst, Marjon A; Kievit, Anneke J A; Schulz, Celine; Armstrong, Linlea; Bi, Xin; Rader, Daniel J; Izumi, Kosuke; Zackai, Elaine H; de Franco, Elisa; Jorge, Paula; Huffels, Sophie C; Hommersom, Marina; Ellard, Sian; Lefeber, Dirk J; Santani, Avni; Hand, Nicholas J; van Bokhoven, Hans; He, Miao; de Brouwer, Arjan P M