Title : Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.

Pub. Date : 2013 Oct 15

PMID : 23748428






1 Functional Relationships(s)
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1 To get insights into possible causes of this heterogeneity of UAKD, we describe the new mutant mouse line Umod(C93F), leading to disruption of a putative disulfide bond which is also absent in a known human UMOD mutation, and compare the phenotype of this new mouse line with the recently published mouse line Umod(A227T). Disulfides uromodulin Homo sapiens