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同一个异合体Col4A4突变在中国家庭成员中引发了不同的病理变化

Fengming Zhu1, Yueqiang Li1, Yuxi Wang1

  • 1Department of Nephrology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Frontiers in genetics
|June 16, 2023
PubMed
概括

在一个患有遗传性炎的中国家庭中,发现了COL4A4基因和TNXB基因共同突变的新奇突变. 这些遗传变异导致了家庭成员之间不同的临床和病理结果,突出显示了遗传和病理检测的重要性.

关键词:
在 COL4A4A4 中使用.在TNXBB上.遗传性炎是一种遗传性炎.异构性基因突变异构性基因突变脏活检 脏活检

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