Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I)
Caroline Scott, Damien J. Downes, Jill M. Brown, Christian Babbs, Aude-Anaïs Olijnik, Matthew E. Gosden, Robert A. Beagrie, Ron Schweßinger, Christopher A. Fisher, Anna M. Rose, David J. P. Ferguson, Errin Johnson, Quentin A. Hill, Steven Okoli, Raffaele Renella, , Veronica J. Buckle
This study models erythropoiesis in CDA-I by analyzing patient-derived erythroblasts, identifying abnormalities in DNA accessibility, proliferation, and enucleation, with genotype-phenotype correlations.
bioRxiv · Aug 30, 2019 · PreprintGenetics