Article
Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 1997
Rysavá R, Tesar V, Jirsa M, Brabec V, Jarolím P
Abstract excerpt
BACKGROUND: Band 3 (anion exchanger 1, AE1) is one of the most abundant proteins of the erythrocyte membrane. We have previously characterized twenty AE1 gene defects underlying spherocytic haemolytic anaemia with band 3 deficiency. Since AE1 is also expressed in the intercalated cells of renal c...
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