The diagnostic value of uromodulin protein measurement in autosomal dominant tubulointerstitial kidney disease due to uromodulin mutation (ADTKD-UMOD): serum or urine?

While individuals carrying this allele exhibited a trend toward lower serum UMOD concentrations, this difference did not reach statistical significance when compared to the major A allele, largely due to the A allele’s high frequency and the resulting limited number of G allele carriers in the study population.

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