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Updated: Jul 23, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在TSPAN12基因中的五种新型功能障碍变异在家族排泄性玻璃红蛋白病变中

You Wang1, Yanting Lai1, Zhaoxin Jiang1

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, 510060, China.

Experimental eye research
|July 14, 2023
PubMed
概括

这项研究在中国家庭中发现了五种新型TSPAN12基因变异,这些变异是家族外泄性玻璃红蛋白病变 (FEVR). 这些变体破坏了诺林/β-catenin信号传输,导致FEVR的视力丧失.

关键词:
在 FEVR 里, FEVR 已经成为了 FEVR.诺林/β-catenin是一种小说变体的新变体这就是TSPAN12基因.

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