作者: Ken-ichi Nakayama , Yoshifumi Jigami
DOI: 10.1007/978-4-431-77922-3_21
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摘要: A congenital disorder of glycosylation syndrome (CDGS) is an autosomal recessive on protein N-glycosylation. The mutated genes causing CDGS are found in N-linked oligosaccharide synthesis gene the endoplasmic reticulum (ER) (Chantret et al. 2003; Frank 2004). N-glycosylation pathway ER almost same any eukaryotic cells from yeast to human. Since most and corresponding mutant strains have been isolated yeast, we cloned characterized human by phenotypic complementation cells.