RENAL TUBULAR ACIDOSIS, DISTAL, 1; DRTA1

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Summary

Literature (1)

Literature for OMIM 179800: RENAL TUBULAR ACIDOSIS, DISTAL, 1; DRTA1

Xenbase Articles:
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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, J Biol Chem. April 2, 2004; 279(14):1083-351X.

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, J Biol Chem. April 2, 2004; 279(14):1083-351X.