Article

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells

2000-08-15

Abstract excerpt

We describe three mutations of the red-cell anion exchanger band 3 (AE1, SLC4A1) gene associated with distal renal tubular acidosis (dRTA) in families from Malaysia and Papua New Guinea: Gly701 → Asp (G701D), Ala858 → Asp (A858D) and deletion of Val850 (δV850). The mutations A858D and ∆V850 are novel; all three mutations seem to be restricted to South-East Asian populations. South-East Asian ovalocytosis (SAO), re...

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Literature Corpus work: 997ba28b-ac4d-5622-b423-3a60e6cff7fd
DOI: 10.1042/0264-6021:3500041

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