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Updated: Jul 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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导致先天性高胰岛素症的非活化ABCC8变体的功能性表征

Ping Wang1,2, Hong Liao2,3, Quyou Wang4

  • 1Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.

Clinical genetics
|January 15, 2024
PubMed
概括

先天性高胰岛素症 (CHI) 通常是由ABCC8基因变异引起的. 这项研究发现了两种ABCC8变异,这些变异破坏了对ATP敏感的通道功能,通过损害蛋白质运输和对葡萄糖的细胞反应导致CHI.

关键词:
ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC8ABCC is also known as the followingly遗传性高胰岛素症是一种先天性高胰岛素症.功能分析是一种功能分析.三元整体外体序列测序

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