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Biol."},{"issue":"1","key":"10.1016\/j.bbagrm.2016.10.002_bb0430","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/0092-8674(88)90483-7","article-title":"Human CCAAT-binding proteins have heterologous subunits","volume":"53","author":"Chodosh","year":"1988","journal-title":"Cell"},{"issue":"13","key":"10.1016\/j.bbagrm.2016.10.002_bb0435","doi-asserted-by":"crossref","first-page":"4203","DOI":"10.1002\/j.1460-2075.1988.tb03317.x","article-title":"The human beta-globin promoter; nuclear protein factors and erythroid specific induction of transcription","volume":"7","author":"deBoer","year":"1988","journal-title":"EMBO J."},{"issue":"11","key":"10.1016\/j.bbagrm.2016.10.002_bb0440","doi-asserted-by":"crossref","first-page":"6969","DOI":"10.1128\/MCB.13.11.6969","article-title":"Activation of the beta-globin promoter by the locus control region correlates with binding of a novel factor to the CAAT box in murine erythroleukemia cells but not in K562 cells","volume":"13","author":"Delvoye","year":"1993","journal-title":"Mol. 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Chem."},{"issue":"3","key":"10.1016\/j.bbagrm.2016.10.002_bb0470","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1093\/emboj\/18.3.687","article-title":"Regulation of embryonic\/fetal globin genes by nuclear hormone receptors: a novel perspective on hemoglobin switching","volume":"18","author":"Filipe","year":"1999","journal-title":"EMBO J."},{"issue":"45","key":"10.1016\/j.bbagrm.2016.10.002_bb0475","doi-asserted-by":"crossref","first-page":"41700","DOI":"10.1074\/jbc.M102987200","article-title":"Cooperation and competition between the binding of COUP-TFII and NF-Y on human epsilon- and gamma-globin gene promoters","volume":"276","author":"Liberati","year":"2001","journal-title":"J. Biol. Chem."},{"issue":"28","key":"10.1016\/j.bbagrm.2016.10.002_bb0480","doi-asserted-by":"crossref","first-page":"9830","DOI":"10.1073\/pnas.0503401102","article-title":"Annotation of cis-regulatory elements by identification, subclassification, and functional assessment of multispecies conserved sequences","volume":"102","author":"Hughes","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"7","key":"10.1016\/j.bbagrm.2016.10.002_bb0485","doi-asserted-by":"crossref","first-page":"5444","DOI":"10.1074\/jbc.M306241200","article-title":"Developmentally specific role of the CCAAT box in regulation of human gamma-globin gene expression","volume":"279","author":"Fang","year":"2004","journal-title":"J. Biol. 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