Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis.
Zhu Q, Shao XM, Kao L, Azimov R, Weinstein AM, Newman D, Liu W, Kurtz I. Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis. Am J Physiol Cell Physiol. 2013 Aug 15; 305(4):C392-405.