Iranian Red Crescent Medical Journal

Published by: Kowsar

A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A

Habib Onsori 1 , * , Mohammad Ali Hosseinpour Feizi 2 and Abbas Ali Hosseinpour Feizi 3
Authors Information
1 Cell and Molecular Biology Department, Marand Branch, Islamic Azad University, Marand, IR Iran
2 Biology Department, Tabriz University, Tabriz, IR Iran
3 Hematology and Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, IR Iran
Article information
  • Iranian Red Crescent Medical Journal: January 5, 2014, 16 (1); e6727
  • Published Online: January 5, 2014
  • Article Type: Case Report
  • Received: June 10, 2012
  • Revised: October 28, 2013
  • Accepted: November 12, 2013
  • DOI: 10.5812/ircmj.6727

To Cite: Onsori H, Hosseinpour Feizi M A, Hosseinpour Feizi A A. A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A, Iran Red Crescent Med J. 2014 ; 16(1):e6727. doi: 10.5812/ircmj.6727.

Abstract
Copyright © 2014, Iranian Red Crescent Medical Journal. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Report
3. Discussion
Acknowledgements
Footnotes
References
  • 1. Habart D. [Molecular diagnosis of haemophilia A in clinical practice]. Cas Lek Cesk. 2005; 144(12): 795-800[PubMed]
  • 2. Higuchi M, Kazazian HH, Jr, Kasch L, Warren TC, McGinniss MJ, Phillips JA, 3rd, et al. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc Natl Acad Sci U S A. 1991; 88(16): 7405-9[PubMed]
  • 3. Bhopale GM, Nanda RK. Blood coagulation factor VIII: An overview. J Biosci. 2003; 28(6): 783-9[PubMed]
  • 4. Booth CJ, Brooks MB, Rockwell S, Murphy JW, Rinder HM, Zelterman D, et al. WAG-F8(m1Ycb) rats harboring a factor VIII gene mutation provide a new animal model for hemophilia A. J Thromb Haemost. 2010; 8(11): 2472-7[DOI][PubMed]
  • 5. Tagariello G, Belvini D, Salviato R, Are A, De Biasi E, Goodeve A, et al. Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis. Haematologica. 2000; 85(5): 525-9[PubMed]
  • 6. Sambrook J, Russell DW. Molecular Cloning: A Laboratory Manual. 2001;
  • 7. Keeney S. Steve Keeney's Primers for PCR amplification.
  • 8. Onsori H, Feizi MA, Feizi AA. A novel mutation (4040-4045 nt. delA) in exon 14 of the factor VIII gene causing severe hemophilia A. Indian J Hum Genet. 2011; 17(3): 232-4[DOI][PubMed]
  • 9. Abid NomanBin, Hussain P, Yasmin Nighat, Zafar Tahira, Iqbal Sohail, Niazi GulzarA. Identification of factor VIII gene mutations in hemophilia A patients from Punjab. World J Med Sci. 2007; 2(1): 25-27
  • 10. Bowen DJ. Haemophilia A and haemophilia B: molecular insights. Mol Pathol. 2002; 55(1): 1-18[PubMed]
  • 11. Kemball-Cook Geoffrey. HAMSTeRS-The factor VIII mutation database on the World Wide Web: The haemophilia A mutation search test and resource site.
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

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