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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Bibliografiske detaljer
Main Authors:	Tanphaichitr, V S, Sumboonnanonda, A, Ideguchi, H, Shayakul, C, Brugnara, C, Takao, M, Veerakul, G, Alper, S L
Format:	Artigo
Sprog:	Inglês
Udgivet:	1998
Fag:	Research Article
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC509172/ https://ncbi.nlm.nih.gov/pubmed/9854053
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Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

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