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Updated: Jan 16, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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评估基因变异在自体主导多囊性病患者使用整体外体序列和表型到基因型分析的基因变异

Hande Aypek1, Rumeysa Fatma Balaban2, Nuseybe Huriyet2

  • 1Division of Nephrology, Bursa Uludag University School of Medicine, Bursa, Türkiye.

Renal failure
|October 1, 2025
PubMed
概括

这项研究在使用全外因子测序的Autosomal Dominant Polycystic Kidney Disease (ADPKD) 患者中发现了新的遗传变异. 这些发现突出了PKD1变体.

关键词:
自体主导多囊性病 (ADPKD) 是一种自体主导多囊性病.在PKD1中,PKD1是PKD1.在PKD2中,PKD2是PKD2.整体外基因组测序 (WES) 测序

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