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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: yenchitsomanus pt. Pediatr Nephrol. 2003 Jul;18(7):644-8. doi: 10.1007/s00467-003-1112-6. Epub 2003 May 16. Pediatr Nephrol. 2003. PMID: 12750988
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.
Rungroj N, Devonald MA, Cuthbert AW, Reimann F, Akkarapatumwong V, Yenchitsomanus PT, Bennett WM, Karet FE. Rungroj N, et al. Among authors: yenchitsomanus pt. J Biol Chem. 2004 Apr 2;279(14):13833-8. doi: 10.1074/jbc.M400188200. Epub 2004 Jan 20. J Biol Chem. 2004. PMID: 14734552 Free article.
206 results