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Updated: Jul 24, 2025

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DPAGT1-CDG:经常发生的胎儿死亡
Huimin Tao1,2,3, Yu Sun1,2,3,4, Jingfang Zhai1,2,3
1Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Birth defects research
|July 8, 2023
概括
在两个胎儿中发现了多利基酸N-乙葡萄糖胺-1-转化酶 (DPAGT1) 基因中的新遗传变异,这些胎儿具有先天性糖化乱 (CDG). 这些DPAGT1-CDG病例导致子宫内胎儿死亡.
科学领域:
- 遗传学 是一个遗传学.
- 生物化学 生物化学
- 发展生物学 发展生物学
背景情况:
- 先天性糖基化乱 (CDG) 是一种影响蛋白质修饰的罕见遗传疾病.
- DPAGT1-CDG是由DPAGT1基因的变异引起的,呈现出严重的多系统异常.
- DPAGT1酶对于N-糖化酶的初始步骤至关重要.
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