A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects
Dganit Dinour, Min Hwang Chang, Jun Ichi Satoh, Brenda L. Smith, Nathan Angle, Aaron Knecht, Irina Serban, Eli J. Holtzman, Michael F. Romero
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