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Article

Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.

The Biochemical journal - 24 Feb 2010

Chu Carmen, Woods Naomi, Sawasdee Nunghathai, Guizouarn Helene, Pellissier Bernard, Borgese Franck, Yenchitsomanus Pa-thai, Gowrishankar Manjula, Cordat Emmanuelle

Abstract excerpt

dRTA (distal renal tubular acidosis) and HS (hereditary spherocytosis) are two diseases that can be caused by mutations in the gene encoding the AE1 (anion exchanger 1; Band 3). dRTA is characterized by defective urinary acidification, leading to metabolic acidosis, renal stones and failure to thrive. HS results in anaemia, which may require regular blood transfusions and splenectomy. Mutations in the gene...

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Share to Acidosis, Renal Tubular
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 20028337
DOI: 10.1042/BJ20091525

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