Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications
Background: The UMOD gene encodes the uromodulin protein, which plays a crucial role in renal function. Genetic alterations affecting its correct function are mainly related to Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD), progressive renal failure and hyperuricaemia, among other var...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-05-01
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| Series: | Nefrología (English Edition) |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2013251425000586 |
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