Weller, Sandra, Braun, Moritz, Tan, Bruce, Rosenwald, Andreas, Cordier, Corinne, Conley, Mary Ellen, ...
The human peripheral B-cell compartment displays a large population of immunoglobulin M-positive, immunoglobulin D-positive CD27(+) (IgM(+)IgD(+)CD27(+)) "memory" B cells carrying a mutated...
Weller, Sandra, Braun, Moritz, Tan, Bruce, Rosenwald, Andreas, Cordier, Corinne, Conley, Mary Ellen, ...
The human peripheral B-cell compartment displays a large population of immunoglobulin M-positive, immunoglobulin D-positive CD27(+) (IgM(+)IgD(+)CD27(+)) "memory" B cells carrying a mutated...
Weller, Sandra, Braun, Moritz, Tan, Bruce, Rosenwald, Andreas, Cordier, Corinne, Conley, Mary Ellen, ...
The human peripheral B-cell compartment displays a large population of immunoglobulin M-positive, immunoglobulin D-positive CD27(+) (IgM(+)IgD(+)CD27(+)) "memory" B cells carrying a mutated...
Impaired ribosome biogenesis in Diamond-Blackfan anemia
Choesmel, Valérie, Bacqueville, Daniel, Rouquette, Jacques, Noaillac-Depeyre, Jacqueline, Fribourg, Sébastien, Crétien, Aurore, ...
The gene encoding the ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia. The consequence of these mutations on the onset of the...
Toye, Ashley M., Williamson, Rosalind C., Khanfar, Moudji, Bader-Meunier, Brigitte, Cynober, Thérèse, Thibault, Madeleine, ...
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,...