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Article

[Uromodulin mutation and hyperuricemia].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 2008

Kudo Eiji, Itakura Mitsuo

Abstract excerpt

The discovery of uromodulin mutations as a cause of FJHN and MCKD2 raises a new question; Why the mutant uromodulin causes uricemic underexcretion and hyperuricemia? Moreover, an old and still unsolved question is now highlighted; What is the physiological function of uromodulin? Recent experimental data on intracellular trafficking of uromodulin mutants and histopathological findings on renal biopsy specimens of...

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Identifiers

PMID: 18409531

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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