Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene Academic Article uri icon

Overview

MeSH Major

  • Gout
  • Hyperuricemia
  • Kidney Diseases
  • Mucoproteins
  • Mutation

abstract

  • Mutation of the uromodulin gene resulted in hyperuricemia, reduced fractional excretion of uric acid, and renal failure. Genetic testing will be required to definitively identify individuals suffering from this condition. We are interested in studying other families that may suffer from this condition and would appreciate any such referrals.

publication date

  • July 2003

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1046/j.1523-1755.2003.00081.x

PubMed ID

  • 12787393

Additional Document Info

start page

  • 36

end page

  • 42

volume

  • 64

number

  • 1