Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications

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: Eloísa Sánchez-Cazorla, Borja Temes-Álvarez, Pilar Oliveros-Martínez, Pedro Fortes-González, María García-Murias, Ana Barcia de la Iglesia, Noa Carrera, Miguel Ángel García-González
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Nefrología (English Edition)
Subjects:
UMOD
Uromodulin
Variantes genéticas recurrentes
Correlación genotipo-fenotipo
Población gallega
Online Access:http://www.sciencedirect.com/science/article/pii/S2013251425000586
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