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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283206/ https://www.ncbi.nlm.nih.gov/pubmed/33987651 http://dx.doi.org/10.1093/hmg/ddab131 |