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Letter

Nature Genetics 41, 936–940 (1 August 2009) | doi:10.1038/ng.405

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

Klaus Schwarz , Achille Iolascon , Fatima Verissimo , Nikolaus S Trede , Wyatt Horsley , Wen Chen , Barry H Paw , Karl-Peter Hopfner , Karlheinz Holzmann , Roberta Russo , Maria Rosaria Esposito , Daniela Spano , Luigia De Falco , Katja Heinrich , Brigitte Joggerst , Markus T Rojewski , Silverio Perrotta , Jonas Denecke , Ulrich Pannicke , Jean Delaunay , Rainer Pepperkok & Hermann Heimpel

Congenital dyserythropoietic anemias (CDAs) are phenotypically and genotypically heterogeneous diseases. CDA type II (CDAII) is the most frequent CDA.