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解读复杂性:一个功能衰竭的病例,与COL4A5和APOE变体的共同遗传

Xiaoyan Zhang1, Shi Jin2, Xuantong Dai1

  • 1Renal Division, Department of Internal Medicine, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

BMC nephrology
|January 29, 2026
PubMed
概括

阿尔波特综合征是一种常见的遗传性病,可能有复杂的遗传原因. 脏活检在诊断阿尔波特综合征和理解变异透性方面补充了全外体序列测序.

关键词:
京都的APOE 京都的APOE在 COL4A5A5 中使用.阿尔波特综合征是什么意思外体序列排序是如何进行的脏活检 脏活检

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