Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

Abstract excerpt

The congenital dyserythropoietic anemias are a heterogeneous group of rare disorders primarily affecting erythropoiesis with characteristic morphological abnormalities and a block in erythroid maturation. Mutations in the CDAN1 gene, which encodes Codanin-1, underlie the majority of congenital dyserythropoietic anemia type I cases. However, no likely pathogenic CDAN1 mutation has been detected in approximately...

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• Blood properties and coagulation
• Erythrocyte Function and Pathophysiology
• Hemoglobinopathies and Related Disorders