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Updated: May 29, 2026

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
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进步的圆-杆突触功能障碍在Dynamin-1 (DNM1) 相关的发育和脑病变:人类明显的视网膜表现型

Oliver R Marmoy1,2, Eleanor Hay1,3, Richard Bowman1,4

  • 1Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.

Clinical genetics
|February 10, 2025
PubMed
概括

由DNM1变体引起的31A型发育性和性脑病变,逐渐损害视网膜突触功能. 电视网膜学 (ERG) 测试显示,患者的内视网膜功能障碍逐渐恶化,突出显示了一种新型的表型.

关键词:
在 DNM1 的情况下.在 ERG ERG 里面,有很多东西可以做.动力是什么?动力是什么?脑病变 - - 脑病变是一种脑病变.是一种.视网膜 视网膜 视网膜 是一个突触突触是突触的组成部分.视觉 视觉 视觉 视觉 视觉 是一个

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