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Updated: Jan 6, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

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临床发现和USH1C相关的阿舍尔综合征的分子遗传学

Nancy Aychoua1,2, Thales A C de Guimarães1,2, Manav B Ponnekanti3

  • 1UCL Institute of Ophthalmology, University College London, London, United Kingdom.

JAMA ophthalmology
|November 26, 2025
PubMed
概括

与USH1C相关的视网膜病变显示了几十年来视力敏度的缓慢下降,影响了抑郁症和失业等社会结果. 这种缓慢的进展表明USH1C相关的视网膜病变是新疗法的潜在目标.

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