Association between genotype and phenotype in uromodulin-associated kidney disease.


BACKGROUND AND OBJECTIVES Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by uromodulin (UMOD) gene mutations. This study explored genotype-phenotype correlations by examining the relationship between the type of UMOD mutation and the age at onset of ESRD. DESIGN, SETTING, PARTICIPANTS & MEASUREMENTS Extensive… (More)
DOI: 10.2215/CJN.11151012


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