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Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis.

Autosomal dominant distal renal tubular acidosis (dRTA) has been associated with several mutations in the anion exchanger AE1 gene. The effect of an 11-amino-acid C-terminal dRTA truncation mutation (901 stop) on the expression of kidney AE1 (kAE1) and erythroid AE1 was examined in transiently trans...

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Main Authors: Quilty, Janne A, Cordat, Emmanuelle, Reithmeier, Reinhart A F
Format: Artigo
Jezik:Inglês
Izdano: 2002
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1223038/
https://ncbi.nlm.nih.gov/pubmed/12227829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20020574
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