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A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.
Sritippayawan S, Kirdpon S, Vasuvattakul S, Wasanawatana S, Susaengrat W, Waiyawuth W, Nimmannit S, Malasit P, Yenchitsomanus PT. Sritippayawan S, et al. Among authors: wasanawatana s. Pediatr Nephrol. 2003 Jul;18(7):644-8. doi: 10.1007/s00467-003-1112-6. Epub 2003 May 16. Pediatr Nephrol. 2003. PMID: 12750988