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Updated: Jun 7, 2025

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
08:43

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在ENPP1中同卵性拼接部位变异是婴儿期一般性动脉化的基础

Hafiza Noor Ul Ayan1,2,3, Yvonne Nitschke4, Abdul Razzaq Mughal5

  • 1Institute for Cardiogenetics, University of Lübeck, Lübeck, 23562, Germany.

BMC pediatrics
|November 13, 2024
PubMed
概括

一种新的ENPP1基因变异导致婴儿期大动脉通用化 (GACI). 这种结合部位突变导致ENPP1活性降低,动脉化增加,并在受影响的婴儿中出现严重的心血管问题.

关键词:
在 ENPP1 中使用.卡西的意思是:加西的意思.拼接位置的变体

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