Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 25, 2001 - Issue 3
45
Views
11
CrossRef citations to date
0
Altmetric
Original

A NOVEL SPLICE ACCEPTOR SITE MUTATION OF THE α2-GLOBIN GENE CAUSING α-THALASSEMIA

, , , &
Pages 311-315 | Received 07 Dec 2000, Published online: 07 Jul 2009

REFERENCES

  • Weatherall D. J., Clegg J. B. The Thalassaemia Syndromes. 3rd edition, Blackwell Scientific Publications, OxfordEngland 1981
  • Bernini L. F., Harteveld C. L. α-Thalassaemia. Sickle Cell Disease and Thalassaemia, G. P. Rodgers. Bailliére's Clinical Haematology: Bailliére Tindall, London 1998; 11: 53–90
  • Wintrobe M. M. Clinical Hematology. Lea and Feiber, PhiladelphiaPA, USA 1974
  • Miller S. A., Dykes D. D., Polesky H. F.A. Simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16: 1215
  • Higgs D. R., Wainscoat J. S., Flint J., Hill A. V.S., Thein S. L., Nicholls R. D., Teal H., Ayyub H., Peto T. E.A., Jarman A., Clegg J. B., Weatherall D. J. Analysis of human α-globin gene cluster reveals a highly informative genetic locus. Proc. Natl. Acad. Sci. USA 1986; 83: 5165–5169
  • Molchanova T. P., Pobedimskaya D. D., Postnikov, Yu V. A. A simplified procedure for sequencing amplified DNA containing the α2- or α1-globin gene. Hemoglobin 1994; 18(3)251–255
  • Smetanina N. S., Huisman T. H.J. Detection of α-thalassemia-2 (−3.7 kb) and its corresponding triplication ααα(anti 3.7 kb) by PCR; an improved technical change. Am. J. Hematol. 1996; 53: 201–203
  • Varela V., Rossetti L. C., Binaghi A., Targovnik H. M., Abreu M. S. Molecular genetics of the thalassemias in Argentina. Sangre 1999; 44: 210–215
  • Noguera N., González F., Ropero P., Anguita E., Milani A., Villegas A. Homozygosis for Constant Spring: The first case described in the west. Haematologica 2000; 85: 667–669
  • Villegas A., Anguita E., Noguera N., González F., Ropero P., Sánchez J., Milani A., Espinos D., Bowden M., Higgs D. R. A new polymorphim (G→A) in the ψζ1 globin gene. Haematologica 2000; 85: 899–901

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.