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Updated: Mar 11, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
06:35

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

Published on: October 10, 2022

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在阿舍尔综合征中,新型USH2A变异的体质马赛克主义

Cheng-Yao Zheng1, Yu-Ying Jiang1, Hong Chen1

  • 1Eye Institute, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong, Jiangsu, China.

Ophthalmic genetics
|March 10, 2026
PubMed
概括

这项研究报告了一种罕见的阿舍尔综合征II型病例,由体质马赛克引起,而不是典型的孟德尔遗传. 研究结果强调在零星情况下考虑马赛克主义,以获得准确的遗传咨询.

关键词:
在USH2A中使用.阿舍尔综合征是什么意思阿舍尔综合征是什么意思遗传视网膜疾病 遗传视网膜疾病感应神经神经听力损失身体上的马赛克主义.

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