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

WGS500 Consortium, Christian Babbs, Nigel A Roberts, Luis Sanchez-Pulido, Simon J McGowan, Momin R Ahmed, Jill M Brown, Mohamed A Sabry, David R Bentley, Gil A McVean, Peter Donnelly, Opher Gileadi, Chris P Ponting, Douglas R Higgs, Veronica J Buckle

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry