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.

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 Del...

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Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: 2000
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1221222/
https://ncbi.nlm.nih.gov/pubmed/10926824
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