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Updated: Jun 16, 2025

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在CABP4中出现了一种新型的同卵性无意义变异,导致静止/棒突触功能障碍

Blake M Hauser1, Emily Place1, Rachel Huckfeldt1

  • 1Harvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA.

Ophthalmic genetics
|August 16, 2024
PubMed
概括

CABP4基因的新型变异导致静止和杆功能障碍,导致视力敏度降低和光恐惧症. 这一遗传发现扩大了对继承性视网膜疾病的理解,超越了先天性静止性夜盲.

关键词:
结合的蛋白质 4 结合的蛋白质 4圆杆疾病 圆杆疾病生产的-棒突触功能障碍.不完整的先天性静止性夜盲症.

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