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Article

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.

Gene - 1 Dec 2013

Liu Maojing, Chen Yuqing, Liang Yu, Liu Ying, Wang Suxia, Hou Ping, Zhang Hong, Zhao Minghui

Abstract excerpt

BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder characterized by hyperuricemia and progressive chronic kidney disease. Uromodulin gene (UMOD) mutations, leading to abnormalities of uromodulin intracellular trafficking contribute to the progress of the disease. METHODS: We did UMOD screening in three Chinese FJHN families. We thus constructed mutant uromodulin...

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Identifiers

PMID: 23988501
DOI: 10.1016/j.gene.2013.08.041

Genes

UMOD

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