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...

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Những tác giả chính: 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
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: 2013