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Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Schmitz-Abe K, et al. Among authors: fleming md. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21. Blood. 2015. PMID: 26491070 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.
Identification of a novel mutation (C321X) in HJV.
Huang FW, Rubio-Aliaga I, Kushner JP, Andrews NC, Fleming MD. Huang FW, et al. Among authors: fleming md. Blood. 2004 Oct 1;104(7):2176-7. doi: 10.1182/blood-2004-01-0400. Epub 2004 May 11. Blood. 2004. PMID: 15138164 Free article.
The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.
Pondarré C, Antiochos BB, Campagna DR, Clarke SL, Greer EL, Deck KM, McDonald A, Han AP, Medlock A, Kutok JL, Anderson SA, Eisenstein RS, Fleming MD. Pondarré C, et al. Among authors: fleming md. Hum Mol Genet. 2006 Mar 15;15(6):953-64. doi: 10.1093/hmg/ddl012. Epub 2006 Feb 8. Hum Mol Genet. 2006. PMID: 16467350
259 results