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Updated: Jul 13, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在COL4A3异构体的表型谱

Kaushal V Solanki1, Yirui Hu2, Bryn S Moore3

  • 1Center for Kidney Health Research, Geisinger, Danville, Pennsylvania, USA.

Kidney international reports
|October 18, 2023
PubMed
概括

由 COL4A3 变体引起的自体主导的阿尔波特综合征 (ADAS) 显示出基于基因型的病严重程度不同. 早期诊断和治疗对于管理这种情况至关重要.

关键词:
艾尔波特综合征 (Alport综合征) 是一种慢性脏疾病 慢性脏疾病临床流行病学临床流行病学遗传性脏疾病 遗传性脏疾病患有功能衰竭的患者

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