Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

The AE1 gene encodes band 3 Cl-/HCO3- exchangers that are expressed both in the erythrocyte and in the acid-secreting, type A intercalated cells of the kidney. Kidney AE1 contributes to urinary acidification by providing the major exit route for HCO3- across the basolateral membrane. Several AE1 mut...

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Detalhes bibliográficos
Main Authors: Tanphaichitr, V S, Sumboonnanonda, A, Ideguchi, H, Shayakul, C, Brugnara, C, Takao, M, Veerakul, G, Alper, S L
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC509172/
https://ncbi.nlm.nih.gov/pubmed/9854053
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