Article
Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.
American journal of physiology. Renal physiology - 1 May 2002
Quilty Janne A, Li Jing, Reithmeier Reinhart A
Abstract excerpt
Distal renal tubular acidosis (dRTA) is an inherited disease characterized by the failure of the kidneys to appropriately acidify urine and is associated with mutations in the anion exchanger (AE)1 gene. The effect of the R589H dRTA mutation on the expression of the human erythroid AE1 and the truncated kidney form (kAE1) was examined in transfected human embryonic kidney 293 cells. AE1, AE1 R589H, and kAE1 were...
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