Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis
Background: Mutations in solute carrier family 4 member 1 (SLC4A1) encoding anion exchanger 1 (AE1) are the most common cause of autosomal recessive distal renal tubular acidosis (AR dRTA) in Southeast Asians. To explain the molecular mechanism of this disease with hematological abnormalities in an...
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| Format: | Article |
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2023
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| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/83517 |
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| Institution: | Mahidol University |