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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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Autori principali: Quilty, Janne A, Cordat, Emmanuelle, Reithmeier, Reinhart A F
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2002
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Accesso online: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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