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Article

Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

Blood - 1 Jun 2008

Toye Ashley M, Williamson Rosalind C, Khanfar Moudji, Bader-Meunier Brigitte, Cynober Thérèse, Thibault Madeleine, Tchernia Gil, Déchaux Michèle, Delaunay Jean, Bruce Lesley J

Abstract excerpt

We describe a mutation in human erythrocyte band 3 (anion exchanger 1; SLC4A1) causing both hereditary spherocytosis and distal renal tubular acidosis. The proband developed a transfusion-dependent, hemolytic anemia following birth. Immunoblotting showed band 3 was reduced to approximately 35% of wildtype; other proteins of the band 3/Rh macrocomplex were also reduced. DNA sequence analysis revealed a novel...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 18174378
DOI: 10.1182/blood-2007-07-099473
PMCID: PMC2605348

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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