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Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.
Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuart-Tilley A, Rubin HL, Simova S, Zavadil J, Herrin JT, Brouillette J, Somers MJ, Seemanova E, Brugnara C, Guay-Woodford LM, Alper SL. Jarolim P, et al. Among authors: herrin jt. J Biol Chem. 1998 Mar 13;273(11):6380-8. doi: 10.1074/jbc.273.11.6380. J Biol Chem. 1998. PMID: 9497368
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