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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 6
122
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Short Communication

A Novel β0-Thalassemia Frameshift Mutation: [HBB:c.216delT]

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Pages 586-588 | Received 12 Jun 2012, Accepted 24 Jul 2012, Published online: 29 Oct 2012

REFERENCES

  • Giardine B, van Baal S, Kaimakis P, et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007;28(2):206 (http://globin.bx.psu.edu/hbvar).
  • Yu N, Kim HR, Cha Y J, Park EK. A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to β-thalassemia. Ann Hematol. 2011;90(2):243–244.
  • Angalena R, Aggarwal S, Phadke SR, Dalal A. Compound heterozygote condition in β thalassemia major due to a novel single nucleotide deletion (–T) at codon 69 in association with IVS 1-5 (G>C) mutation. Int J Lab Hematol. 2012;34(4):e7–e9.
  • Boussiou M, Karababa P, Sinopoulou K, Tsaftaridis P, Plata, E, Loutradi-Anagnostou A. The molecular heterogeneity of β-thalassemia in Greece. Blood Cells Mol Dis. 2008;40(3):317–319.
  • Meldrum, CJ, McPhillips, M, Crooks R, . A comparison between denaturing gradient gel electrophoresis and denaturing high performance liquid chromatography in detecting mutations in genes associated with hereditary non-polyposis colorectal cancer (HNPCC) and the identification of 9 new mutations previously unidentified by DGGE. Hered Cancer Clin Pract. 2003;1:39–48.

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