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 mutat...
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Main Authors: | , , , , , , , |
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Format: | Article |
Published: |
2018
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Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/18433 |
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Institution: | Mahidol University |
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