先天性糖基化病的研究进展
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王晓波；刘飞鹏
先天性糖基化病|糖基化|N-聚糖|转铁蛋白,关键词：
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王晓波；刘飞鹏 暨南大学生命科学技术学院生物工程学系 广东广州510632 中国病理生理杂志 2003 2
关键词：先天性糖基化病；糖基化；N-聚糖；转铁蛋白
Congenital disorders of glycosylation(CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystemic diseases often involving severe psychomotor retardation. The CDG causing sialic acid deficiency of N-glycans can be diagnosed by isoelectric focusing of serum transferrin. Glycan structural analysis, yeast genetics and knockout animal models are essential tools in the elucidation of nove ...
关键词：先天性糖基化病；糖基化；N-聚糖；转铁蛋白
Congenital disorders of glycosylation(CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystemic diseases often involving severe psychomotor retardation. The CDG causing sialic acid deficiency of N-glycans can be diagnosed by isoelectric focusing of serum transferrin. Glycan structural analysis, yeast genetics and knockout animal models are essential tools in the elucidation of nove ...
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