Missense mutations and proximal RTA. Have we reached a new threshold? Focus on "missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis"

Am J Physiol Cell Physiol. 2013 Aug 15;305(4):C373-4. doi: 10.1152/ajpcell.00152.2013. Epub 2013 May 29.
No abstract available

Publication types

  • Editorial
  • Comment

MeSH terms

  • Acidosis, Renal Tubular / metabolism*
  • Humans
  • Kidney Tubules, Proximal / metabolism*
  • Mutation, Missense*
  • Sodium-Bicarbonate Symporters / metabolism*

Substances

  • SLC4A4 protein, human
  • Sodium-Bicarbonate Symporters