Article
Association between genotype and phenotype in uromodulin-associated kidney disease.
Clinical journal of the American Society of Nephrology : CJASN - 1 Aug 2013
Moskowitz Jonathan L, Piret Sian E, Lhotta Karl, Kitzler Thomas M, Tashman Adam P, Velez Erin, Thakker Rajesh V, Kotanko Peter
Abstract excerpt
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 bibliographic research was used to ascertain patient-level data of...
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