학술논문
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
Document Type
Article
Author
Polla, D.L.; Huffels, S.C.; Hommersom, M.; van Bokhoven, H.; de Brouwer, A.P.M.; Edmondson, A.C.; Izumi, K.; Zackai, E.H.; Duvet, S.; Schulz, C.; March, M.E.; Rader, D.J.; Sousa, A.B.; Lehman, A.; Armstrong, L.; Niyazov, D.; van Dijk, F.; Demirdas, S.; van Slegtenhorst, M.A.; Kievit, A.J.A.; Bi, X.; Hand, N.J.; de Franco, E.; Ellard, S.; Jorge, P.; Lefeber, D.J.; Santani, A.; He, M.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 July 2021, 108(7):1342-1349)
Subject
Language
English
ISSN
15376605
00029297
00029297