References
- Welsh KJ, Kirkman MS, Sacks DB. Role of glycated proteins in the diagnosis and management of diabetes: research gaps and future directions. Diabetes Care. 2016;39(8):1299–1306.
- Thom CS, Dickson CF, Gell DA, et al. Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harb Perspect Med. 2013;3(3):a011858.
- Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):1063–1069.
- Kountouris P, Stephanou C, Bento C, et al. ITHANET: information and database community portal for haemoglobinopathies. 2017. Available from: https://www.ithanet.eu.
- Cardiero G, Scarano C, Musollino G, et al. Role of nonsense-mediated decay and nonsenseassociated altered splicing in the mRNA pattern of two new α-thalassemia mutants. Int J Biochem Cell Biol. 2017;91(Pt B):212–222.
- Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006;14(10):1074–1081.
- Ohba Y. Unstable hemoglobins. Hemoglobin. 1990;14(4):353–388.
- Oliveira JL, Swanson K, Wendt P, et al. Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: a new high oxygen affinity variant. Hemoglobin. 2010;34(6):565–571.
- Winslow RM, Swenberg ML, Gross E, et al. Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to term). A human "nonsense" mutation leading to a shortened beta-chain. J Clin Invest. 1976;57(3):772–781.
- Jogessar VB, Westermeyer K, Webber BB, et al. Hb natal or alpha 2(minus Tyr-Arg) beta 2: a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC––TAA (Tyr––terminating codon) mutation in codon alpha 140. Biochim Biophys Acta. 1988;951(1):36–41.