A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.
罕见SLC35A1-CDG中的一种新型错义变异会改变细胞糖基化、脂质和能量代谢，但不影响CDG血清标志物
期刊:Human Mutation
影响因子:3.7
doi:10.1155/humu/6290620
Falkenstein Kristina, Hoeren Lukas, Kikul Frauke, Poschet Gernot, Lüchtenborg Christian, Brecht Ines B, Falb Ruth, Gauck Darja, Haack Tobias, Hecker Andreas, Himmelreich Nastassja, Okun Jürgen G, Brügger Britta, Thiel Christian
