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Updated: Jun 27, 2025

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一种新的COL4A5拼接突变导致中国一家人患上阿波特综合征

Suyun Chen1,2, Guangbiao Xu3, Zhixin Zhao4

  • 1Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, China.

BMC medical genomics
|April 26, 2024
PubMed
概括

在一个患有阿尔波特综合征 (AS) 的家庭中发现了一种导致异常拼接的新型COL4A5基因突变. 这一发现扩大了已知的AS遗传原因,并改善了对其分子机制的理解.

关键词:
COL4A5 基因 基因 基因 基因这是一种异常的拼接.阿尔波特综合征是什么意思迷你基因检测方法

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