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CHU , Carmen

Last name: CHU

First name: Carmen

March 15, 2010 (v1)

Journal article

Metadata-only

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

Chu, Carmen Woods, Naomi Sawasdee, Nunghathai

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...

Uploaded on: December 3, 2022