Article

A novel SLC4A1 mutation in a 7 years-old Italian boy with hereditary spherocytosis and distal renal tubular acidosis

2024-01-31

Abstract excerpt

Hereditary spherocytosis (HS) and hereditary distal renal tubular acidosis (dRTA) could share a common pathogenesis, related to defects in band 3 anion exchanger 1 (AE1), encoded by the human solute carrier family 4 anion exchanger member 1 (SLC4A1) gene. SLC4A1 is expressed both in the red blood cell membrane (eAE1) and in distal tubules of the kidney (kAE1), its mutations may result in red blood cells dysmorphol...

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Literature Corpus work: b3e9b722-9f05-53a9-81a4-3c2c41e1d2db
DOI: 10.22541/au.170670718.83731309/v1

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