Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.

Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.

Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant genetic disorder that is characterized by hyperuricemia, gout, and tubulointerstitial nephritis. FJHN is caused by mutations in the UMOD gene, which encodes for uromodulin, the most abundant urinary protein. Herein is demons...

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Dades bibliogràfiques
Autors principals:	Jennings, P, Aydin, S, Kotanko, P, Lechner, J, Lhotta, K, Williams, S, Thakker, R, Pfaller, W
Format:	Journal article
Idioma:	English
Publicat:	2007

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