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Updated: Jan 9, 2026

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy
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洞察与COG6-CDGG相关的病理性糖化

Zuzana Pakanová1, Maroš Krchňák1, Marek Nemčovič1

  • 1Department of Glycobiology, Institute of Chemistry, Slovak Academy of Sciences, Bratislava, Slovakia.

Human mutation
|December 9, 2025
PubMed
概括

我们发现了一种新的COG6变异,导致COG6蛋白功能在患有多系统性先天性糖化乱 (CDG) 的婴儿中完全丧失. 这一发现为COG6-CDG分子机制和潜在的诊断生物标志物提供了洞察力.

关键词:
这是一个COG6-CDG.糖化物是什么?糖化物是什么?葡萄糖型的葡萄糖型是什么质谱测量质谱测量质谱测量质量测量质谱测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量

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