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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.

The Biochemical journal - 15 Aug 2000

Bruce L J, Wrong O, Toye A M, Young M T, Ogle G, Ismail Z, Sinha A K, McMaster P, Hwaihwanje I, Nash G B, Hart S, Lavu E, Palmer R, Othman A, Unwin R J, Tanner M J

Abstract excerpt

We describe three mutations of the red-cell anion exchangerband 3 (AE1, SLC4A1) gene associated with distalrenal tubular acidosis (dRTA) in families from Malaysia and Papua NewGuinea: Gly(701)-->Asp (G701D), Ala(858)-->Asp(A858D) and deletion of Val(850) (DeltaV850). The mutationsA858D and DeltaV850 are novel; all three mutations seem to berestricted to South-East Asian populations. South-East Asianovalocytosis...

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PMID: 10926824
PMCID: PMC1221222

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Source receipt: pubmed, retrieved 7 Sept 2026.

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