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Updated: Jul 6, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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新型化合物异质合体MYO15A拼接变体在自体逆性非综合征性听力损失中

Kaifeng Zheng1, Sheng Lin2, Jian Gao1

  • 1Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, China.

BMC medical genomics
|January 3, 2024
PubMed
概括

基因测试在MYO15A基因中发现了复合异质合体拼接变体,揭示了中国一家人患有自身逆性非综合征感应神经听力损失 (ARNSHL) 的原因. 这一发现有助于诊断和管理遗传性听力损失.

关键词:
基因型 基因型 基因型这就是MYO15A.非综合征性听力损失是什么?剪接的变种是剪接的变种.

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