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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME. Guernsey DL, et al. Among authors: fleming md. Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412178
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.
259 results