MOLECULAR CHARACTERIZATION OF HEMOPHILIA A IN SOUTHEAST BULGARIA
Sukarova Stefanovska E1, Tchakarova P2, Petkov GH2, Efremov GD1,*
*Corresponding Author: Professor Dr. Georgi D. Efremov, Research Centre for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Bul. Krste Misirkov 2, POB 428, Skopje 1000, Republic of Macedonia; Tel.: +389-2-3235-411; Fax: +389-2-3115-434;E-mail: gde@manu.edu.mk
page: 55

REFERENCES

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  3. Saenko EL, Ananyeva NM, Tuddenham EGD, Kemball-Cook G. Factor FVIII – novel insights into form and function. Br J Haematol 2002; 119(2): 323-331.

  4. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII are a common cause for severe Haemophilia A. Nat Genet 1993; 5(3): 236-241.

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  6. Kemball Cook G, Tuddenham EGD, Wacey AI. The factor VIII structure and mutation resource site HAMSTeRS version 4. Nucleic Acids Res 1998; 26(1): 216-219 (http://europium.csc.mrc. ac.uk)

  7. Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of factor VIII deficiency 60 in hemophilia A. Hum Mutat 1995; 5(1): 1-22.

  8. Efremov G.D, Dimovski A.J, Plaseska- Karanfilska D, Simjanovsa L, Sukarova E, Koceva S, Popovski Z. Laboratory Manual, 2nd ed. 1998. ICGEB Affilated Center “Nucleic acid based methods in human and veterinary medicine.” Skopje: Macedonian Academy of Sciences and Arts, 1998.

  9. Gitschier J, Wood WI, Tuddenham EGD, Shuman MA, Goralka TM, Chen EY, Lawn RM. Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature 1985; 315(6018): 427-430.

  10. David D, Moreira I, Lalloz MRA, Rosa HAV, Schwaab R, Morais S, Diniz MJ, de Deus G, Camops M, Lavinha J, Johnson D, Tuddenham EGD. Analysis of the essential sequences of the human factor VIII gene in twelve haemophilia A patients with single strand conformation polymorphism. Blood Coagul Fibrinol 1992; 5(2): 257- 264.

  11. Diamond C, Kogan S, Levinson B, Gitschier J. Amino acid substitutions in a conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.Hum Mutat 1992; 1(3): 248-257.

  12. Antonarakis SE, and a consortium of more than 50 international authors. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995; 86(6): 2206-2212.

  13. Rossiter JP, Young M, Kimberland ML, Hutter P, Ketterling RP, Gitschier J, Horst J, Morris MA, Schaid DJ, de Moerloose P, Sommer SS, Kazazian HH, Antonarakis SE. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 3(7): 1035-1039.

  14. Schroder J, El-Maarri O, Schwaab R, Muller CR, Oldenburg J. Factor VIII intron-1 inversion: frequency and inhibitor prevalence. J Thromb Haemost 2006; 4(5): 1141-11413.

  15. Andrikovics H, Klein I, Bors A, Nemes L, Marosi A, Varadi A, Tordai A. Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. Haematologica 2003; 88(7): 778-784.

  16. Sukarova E, Dimovski AJ, Tchacarova P, Petkov GH, Efremov GD. An Alu insert as the cause of a severe form of hemophilia A. Acta Haematol 2001, 106(3): 126-129.




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