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.