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Updated: Jun 13, 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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在ALG11中鉴定了两种新型变异,这些变异导致了先天性糖基化乱

Peiwei Zhao1, Xiankai Zhang1, Zhengrong Duan2

  • 1Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China.

Seizure
|September 11, 2024
PubMed
概括

这项研究在ALG11基因中发现了两种新的遗传变异,导致ALG11-CDG (先天性糖化乱),这是一种罕见的神经系统疾病. 这些发现强调了整个外体序列测序对于诊断这种疾病至关重要.

关键词:
在 ALG1111 中.葡萄糖化先天性疾病在GP130中,我们使用的是GP130微头症是一个微头症.发作 发作 发作

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