title: 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".
authors.forename: Snezana
authors.initials: S
authors.lastname: Petrovic
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Dubose
mesh_terms: D000141:Acidosis, Renal Tubular / Q000378:metabolism*; D006801:Humans; D007687:Kidney Tubules, Proximal / Q000378:metabolism*; D020125:Mutation, Missense; D027982:Sodium-Bicarbonate Symporters / Q000378:metabolism*
chemical_list: C498898:SLC4A4 protein, human; D027982:Sodium-Bicarbonate Symporters