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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...

詳細記述

保存先:
書誌詳細
主要な著者: Quilty, Janne A, Cordat, Emmanuelle, Reithmeier, Reinhart A F
フォーマット: Artigo
言語:Inglês
出版事項: 2002
主題:
オンライン・アクセス: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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