Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA; WGS500 Consortium; Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ.
Babbs C, et al. Among authors: roberts na.
Haematologica. 2013 Sep;98(9):1383-7. doi: 10.3324/haematol.2013.089490. Epub 2013 May 28.
Haematologica. 2013.
PMID: 23716552
Free PMC article.