Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
Dol-P-Man 合酶亚基 DPM3 的缺乏导致先天性糖基化障碍与营养不良症
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.06.006
Dirk J Lefeber, Johannes Schönberger, Eva Morava, Mailys Guillard, Karin M Huyben, Kiek Verrijp, Olga Grafakou, Athanasios Evangeliou, Frank W Preijers, Panagiota Manta, Jef Yildiz, Stephanie Grünewald, Martha Spilioti, Christa van den Elzen, Dominique Klein, Daniel Hess, Hisashi Ashida, Jan Hofstee
