Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1
Dgany, Orly, Avidan, Nili, Delaunay, Jean, Krasnov, Tatyana, Shalmon, Lea, Shalev, Hanna, ...
Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders associated with dysplastic changes in late erythroid precursors. CDA type I (CDAI [MIM...
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...