Database of CLCN5 Pathogenic Variants Causing Dent Disease
Introduction: Dent disease type 1 is an X-linked proximal tubulopathy caused by pathogenic variants in CLCN5, which encodes the chloride/proton exchanger, ClC-5. Loss of ClC-5 function disrupts receptor-mediated endocytosis, resulting in low–molecular-weight proteinuria, hypercalciuria, nephrocalcin...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2026-05-01
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| Seri Bilgileri: | Kidney International Reports |
| Konular: | |
| Online Erişim: | http://www.sciencedirect.com/science/article/pii/S2468024926027075 |
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