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Updated: Jun 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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ME2 缺乏与衰退性神经发育障碍有关

Naif A M Almontashiri1, Essa Alharby1, Mohammed Saleh2

  • 1Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.

Clinical genetics
|October 14, 2024
PubMed
概括

恶性酶2 (ME2) 缺乏是神经发育障碍 (NDD) 的新发现原因之一. 这项研究确定了一种与NDD相关的新型ME2基因变异,突出了它在线粒体功能中的关键作用.

关键词:
ME2 ME2 的意思是什么?克雷布斯循环是一个循环.NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD功能丧失 功能丧失 功能丧失马拉酸盐是什么 马拉酸盐是什么这是一种衰退式的衰退式.

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