REFERENCES
- Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30(12):e57.
- Harteveld CL, Voskamp A, Phylipsen M, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922–931.
- Van Ziffle J, Yang W, Chehab FF. Homozygous deletion of six olfactory receptor genes in a subset of individuals with β-thalassemia. PLoS One. 2011;6(2):e17327.
- Gallienne AE, Iberson NM, Dreau HM, Characterization of a novel deletion causing β-thalassemia major in an Afghan family. Hemoglobin. 34(1):110–114.
- Phylipsen M, Harteveld CL, de Metz M, New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A2-Ramallah or δ6(A3)Glu→Gln, GAG>CAG]. Hemoglobin. 2010;34(5):445–450.
- Harteveld CL, Wijermans PW, Arkesteijn SG, Van Delft P, Kerkhoffs JL, Giordano PC. Hb Lepore-Leiden: a new δ/β rearrangement associated with a β-thalassemia minor phenotype. Hemoglobin. 2008;32(5):446–453.
- Badr FM, Lorkin PA, Lehmann H. Haemoglobin P-Nilotic containing a βδ chain. Nat New Biol. 1973;242(117):107–110.
- Liu JZ, Harano T, Lanclos KD, Huisman THJ. The βδ crossover leading to the βδ hybrid gene of Hemoglobin P-Nilotic is located within 54 base-pair of the 5′ end of exon 2 or between codons 31 and 50. Biochim Biophys Acta. 1987;909(3):208–212.
- Phylipsen M, Chaibunruang A, Vogelaar IP, Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements. Hum Mutat. 2012;33(1):272–280.