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Updated: Jun 28, 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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一个DNAG-四重复的破坏会导致一种与发育障碍相关的功能增益SCL45A1变体

Yuxi Chen1,2, Jiang Long3, Sixian Wu1

  • 1Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, China.

Acta biochimica et biophysica Sinica
|April 24, 2024
PubMed
概括

SLC45A1基因的突变破坏了DNA的G-四重复结构,增加了蛋白质表达,并可能导致智力和发育障碍. 这一发现突显了DNA G-四重复在大脑发育中的作用.

关键词:
DNA DNA G4 G4 的时间功能收益的功能收益.转录增强器转录增强器

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