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Keywords: distal renal tubular acidosis
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Biochem J (2017) 474 (15): 2573–2584.
Published: 18 July 2017
...) exchanger 1 (kAE1) can cause genetic distal renal tubular acidosis (dRTA). Different SLC4A1 mutations give rise to mutant kAE1 proteins with distinct defects in protein trafficking. The mutant kAE1 protein may be retained in endoplasmic reticulum (ER) or Golgi apparatus, or mis-targeted to the apical...