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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Toye, Ashley M., Williamson, Rosalind C., Khanfar, Moudji, Bader-Meunier, Brigitte, Cynober, Thérèse, Thibault, Madeleine, Tchernia, Gil, Déchaux, Michèle, Delaunay, Jean, Bruce, Lesley J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2008
Schlagworte:
Red Cells
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge