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Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function
Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease. Although mutations in the electrogenic Cl(−)/H(+) antiporter ClC...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8283206/ https://ncbi.nlm.nih.gov/pubmed/33987651 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab131 |
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