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Updated: Jul 15, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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两种SLC4A11新型变异在患有先天性遗传性内皮缩症患者中的致病性和功能分析

Tianjiao Zhen1, Ya Li2, Qingge Guo2

  • 1Henan University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China.

Translational vision science & technology
|October 3, 2023
PubMed
概括

这项研究在一个先天性遗传性内皮缩症 (CHED) 家族中发现了两种新型SLC4A11变异. 这种K263R变体导致了线粒体功能障碍,但抗氧化剂SkQ1显示出保护作用,这表明了对CHED的潜在新疗法.

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