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中华肾病研究电子杂志 ›› 2020, Vol. 09 ›› Issue (03) : 142 -143. doi: 10.3877/cma.j.issn.2095-3216.2020.03.012

所属专题: 经典病例 经典病例 文献

病例报告

COL4A4基因新错义突变致常染色体隐性遗传Alport综合征1例
康喆1, 谢华1,(), 孙艳玲1, 张圣坤1, 赵华1, 冯青1, 罗寿岩1   
  1. 1. 116000 大连瑞凯尔肾病医院肾内科
  • 收稿日期:2019-08-12 出版日期:2020-06-28
  • 通信作者: 谢华

A case of autosomal recessive Alport syndrome caused by a novel missense mutation of COL4A4 gene

Zhe Kang1, Hua Xie1(), Yanling Sun1   

  • Received:2019-08-12 Published:2020-06-28
  • Corresponding author: Hua Xie
引用本文:

康喆, 谢华, 孙艳玲, 张圣坤, 赵华, 冯青, 罗寿岩. COL4A4基因新错义突变致常染色体隐性遗传Alport综合征1例[J]. 中华肾病研究电子杂志, 2020, 09(03): 142-143.

Zhe Kang, Hua Xie, Yanling Sun. A case of autosomal recessive Alport syndrome caused by a novel missense mutation of COL4A4 gene[J]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2020, 09(03): 142-143.

图1 先证者家系图
表1 检测结果
[1]
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