Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families

Rheumatology (Oxford). 2020 Dec 1;59(12):3988-3990. doi: 10.1093/rheumatology/keaa461.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Humans
  • Introns / genetics
  • Loss of Function Mutation / genetics
  • Male
  • Organic Anion Transporters / genetics*
  • Organic Cation Transport Proteins / genetics*
  • Pedigree
  • RNA Splicing
  • Renal Tubular Transport, Inborn Errors / genetics*
  • Sequence Analysis, DNA
  • Urinary Calculi / genetics*

Substances

  • Organic Anion Transporters
  • Organic Cation Transport Proteins
  • SLC22A12 protein, human

Supplementary concepts

  • Renal hypouricemia