Cystinuria: A Genetic and Molecular View – What Is Known about Animal Models and Cells
Background: Cystinuria is a rare genetic tubulopathy caused by mutations on SLC7A9 and SLC3A1 genes encoding for the apical membrane rBAT/b0,+AT transporter. The mean worldwide frequency of cystinuria is estimated to be 1:7,000 with significant ethnogeographic variation in prevalence. Cys...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Karger Publishers
2025-01-01
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| coleção: | Kidney & Blood Pressure Research |
| Acesso em linha: | https://karger.com/article/doi/10.1159/000547038 |
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