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The CYB5R3c .350C>G and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.
Gordeuk VR, Shah BN, Zhang X, Thuma PE, Zulu S, Moono R, Reading NS, Song J, Zhang Y, Nouraie M, Campbell A, Minniti CP, Rana SR, Darbari DS, Kato GJ, Niu M, Castro OL, Machado R, Gladwin MT, Prchal JT. Gordeuk VR, et al. Among authors: reading ns. Am J Hematol. 2020 Nov;95(11):1269-1279. doi: 10.1002/ajh.25941. Epub 2020 Sep 23. Am J Hematol. 2020. PMID: 32697331 Free PMC article. Clinical Trial.
Missense mutation of the last nucleotide of exon 1 (G->C) of beta globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele.
Agarwal N, Kutlar F, Mojica-Henshaw MP, Ou CN, Gaikwad A, Reading NS, Bailey L, Kutlar A, Prchal JT. Agarwal N, et al. Among authors: reading ns. Haematologica. 2007 Dec;92(12):1715-6. doi: 10.3324/haematol.11543. Haematologica. 2007. PMID: 18056002 Free article.
48 results