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Three Novel Spectrin Variants in Jaundiced Neonates.
Christensen RD, Agarwal AM, Yaish HM, Reading NS, O'Brien EA, Prchal JT. Christensen RD, et al. Among authors: reading ns. Clin Pediatr (Phila). 2018 Jan;57(1):19-26. doi: 10.1177/0009922816687326. Epub 2017 Jan 15. Clin Pediatr (Phila). 2018. PMID: 28090778
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.
Development of a rapid multiplex PCR assay for identification of the three common Hemoglobin-Lepore variants (Boston-Washington, Baltimore, and Hollandia) and identification of a new Lepore variant.
Nussenzveig RH, Vanhille DL, Hussey D, Reading NS, Agarwal AM. Nussenzveig RH, et al. Among authors: reading ns. Am J Hematol. 2012 Oct;87(10):E74-5. doi: 10.1002/ajh.23304. Epub 2012 Aug 1. Am J Hematol. 2012. PMID: 23001912 Free article. No abstract available.
48 results