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X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD. Campagna DR, et al. Among authors: fleming md. Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Am J Hematol. 2014. PMID: 24166784 Free PMC article.
The molecular defect in hypotransferrinemic mice.
Trenor CC 3rd, Campagna DR, Sellers VM, Andrews NC, Fleming MD. Trenor CC 3rd, et al. Among authors: fleming md. Blood. 2000 Aug 1;96(3):1113-8. Blood. 2000. PMID: 10910930 Free article.
The Steap proteins are metalloreductases.
Ohgami RS, Campagna DR, McDonald A, Fleming MD. Ohgami RS, et al. Among authors: fleming md. Blood. 2006 Aug 15;108(4):1388-94. doi: 10.1182/blood-2006-02-003681. Epub 2006 Apr 11. Blood. 2006. PMID: 16609065 Free PMC article.
266 results