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Hemoglobin
international journal for hemoglobin research
Volume 26, 2002 - Issue 1
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Original

IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)

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Pages 87-89 | Received 01 Jun 2001, Accepted 06 Sep 2001, Published online: 07 Jul 2009

REFERENCES

  • Huisman T. H.J., Carver M. F.H., Baysal E. A Syllabus of Thalassemia Mutations (1997). The Sickle Cell Anemia Foundation, Augusta, GAUSA 1997, (http://globin.cse.psu.edu)
  • Old J. M., Varawalla N. Y., Weatherall D. J. Rapid detection and prenatal diagnosis of β-thalassaemia: studies in the Indian and Cypriot populations of the UK. Lancet 1990; 336: 834–837
  • Saiki R. K., Gelfand D. H., Stoeffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487–491
  • Krawczak M., Reiss J., Cooper D. N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 1992; 90: 41–54
  • Orkin S. H., Kazazian H. H., Jr., Antonarakis S. E., Goff S. C., Boehm C. D., Sexton J. P., Waber P. G., Giardina P. J.V. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982; 296: 627–631
  • Kazazian H. H., Jr., Orkin S. H., Antonarakis S. E., Sexton J. P., Boehm C. D., Goff S. C., Waber P. G. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J. 1984; 3: 593–596
  • Waye J. S., Eng B., Patterson M., Chui D. H.K., Fernandes B. J. Novel β-thalassemia mutation in patients of jewish descent: [β30(B12)Arg → Gly or IVS-I (−2) (A → G)]. Hemoglobin 1998; 22(1)83–85

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