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

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 wi...

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Detalhes bibliográficos
Main Authors: Toye, Ashley M., Williamson, Rosalind C., Khanfar, Moudji, Bader-Meunier, Brigitte, Cynober, Thérèse, Thibault, Madeleine, Tchernia, Gil, Déchaux, Michèle, Delaunay, Jean, Bruce, Lesley J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2008
Assuntos:
Red Cells
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2605348/
https://ncbi.nlm.nih.gov/pubmed/18174378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-07-099473
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