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Updated: Jul 1, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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在DFNB61听力损失中,p.R130S prestin变异的致病作用

Satoe Takahashi1, Yingjie Zhou2, Mary Ann Cheatham2,3

  • 1Department of Otolaryngology - Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

The Journal of physiology
|March 3, 2024
PubMed
概括

普雷斯 (SLC26A5) 基因的突变导致DFNB61听力损失. 这项研究表明,p.R130S变异导致渐进的外皮毛细胞损失,这表明听力损失干预的潜在治疗窗口.

关键词:
在 DFNB61 找在 SLC26A5A5 中.听器放大放大器的使用电移动性的电移动性普雷斯廷 普雷斯廷是什么意思

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