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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 5
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Short Communication

A New Frameshift Mutation on the α2-Globin Gene Causing α+-Thalassemia: Codon 43 (TTC>–TC or TTC>T–C)

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Pages 508-510 | Received 23 Mar 2012, Accepted 11 Apr 2012, Published online: 19 Sep 2012

REFERENCES

  • Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations of the globin gene server. Hum Mutat. 2002;19(3):225–233 (http://globin.cse.psu.edu/hbvar/menu.html).
  • Higgs DR. The molecular mechanisms of α-thalassemia. In: Steinberg MH, Ed. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, 2nd ed. Cambridge: Cambridge University Press. 2009:241–265.
  • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000;95(1):360–362.
  • Dodé C, Rochette J Krishnamoorthy R. Locus assignment of the human α-globin mutations by selective amplification and direct sequencing. Br J Haematol. 1990;76(2):275–281.
  • Eng B, Waye JS. Frameshift mutation in the α2-globin gene causing α+-thalassemia: codon 49(–GC). Hemoglobin. 2008;32(3):315–317.

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