A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome

Clin Chim Acta. 2008 Dec;398(1-2):157-8. doi: 10.1016/j.cca.2008.08.005. Epub 2008 Aug 8.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Aged
  • Creatinine / blood
  • DNA Mutational Analysis
  • Diabetes Mellitus, Type 2 / genetics
  • Family
  • Female
  • Humans
  • Kidney Diseases / genetics*
  • Kidney Diseases / metabolism
  • Kidney Function Tests
  • Male
  • Metabolic Syndrome / genetics*
  • Metabolic Syndrome / metabolism*
  • Mutation / genetics
  • Organic Anion Transporters / genetics*
  • Organic Cation Transport Proteins / genetics*
  • Uric Acid / metabolism*

Substances

  • Organic Anion Transporters
  • Organic Cation Transport Proteins
  • SLC22A12 protein, human
  • Uric Acid
  • Creatinine