Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
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 dyser...
Main Authors: | Babbs, C, Roberts, N, Sanchez-Pulido, L, McGowan, S, Ahmed, MR, Brown, J, Sabry, M, Bentley, DR, Mcvean, G, Donnelly, P, Gileadi, O, Ponting, C, Higgs, D, Buckle, V |
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Format: | Journal article |
Language: | English |
Published: |
2013
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