在一个患有听觉神经病变的中国家庭中,OTOF基因发生了一种新奇突变

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Updated: Jun 24, 2025

Optogenetic Stimulation of the Auditory Nerve
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Optogenetic Stimulation of the Auditory Nerve

Published on: October 8, 2014

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Lin Deng1,2,3, Cheng Wen1,2,3, Yiding Yu1,2,3

  • 1Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

Intractable & rare diseases research
|June 5, 2024
PubMed
概括

听力神经病变 (AN) 的精确遗传诊断对于基因疗法至关重要. 整体外体序列测定在患有AN的兄弟姐妹中发现了新的OTOF基因突变,扩大了突变谱.

关键词:
这是OTOF基因.听觉神经病变是一种听觉神经病变.整体外因子测序的测序

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