A VIII. faktor génjének molekuláris biológiai vizsgálata haemophilia A megbetegedésben.

Translated title of the contribution: Molecular biologic study and the factor VIII gene in hemophilia A

I. Bock, B. Melegh, A. Nagy, H. Losonczy, B. Csete, W. Schröder, M. Kardos, L. István, R. Jager, A. M. Tóth, A. Tóth, H. Falko, G. Mózsik

Research output: Contribution to journalArticle

Abstract

Results of inversion in the intron 22 region of the VIII factor gene studied by Southern blot are presented. Inversion was found in 20 of 46 patients. In 14 cases (70%) distal and in 6 cases (30%) proximal type of inversion was detected. The significance of the positive result in genetic counseling and in presymptomatic diagnosis of Haemophilia A is emphasized.

Original languageHungarian
Pages (from-to)2573-2575
Number of pages3
JournalOrvosi Hetilap
Volume137
Issue number46
Publication statusPublished - Nov 17 1996

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Genetic Counseling
Factor VIII
Hemophilia A
Biological Factors
Southern Blotting
Introns
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A VIII. faktor génjének molekuláris biológiai vizsgálata haemophilia A megbetegedésben. / Bock, I.; Melegh, B.; Nagy, A.; Losonczy, H.; Csete, B.; Schröder, W.; Kardos, M.; István, L.; Jager, R.; Tóth, A. M.; Tóth, A.; Falko, H.; Mózsik, G.

In: Orvosi Hetilap, Vol. 137, No. 46, 17.11.1996, p. 2573-2575.

Research output: Contribution to journalArticle

Bock, I, Melegh, B, Nagy, A, Losonczy, H, Csete, B, Schröder, W, Kardos, M, István, L, Jager, R, Tóth, AM, Tóth, A, Falko, H & Mózsik, G 1996, 'A VIII. faktor génjének molekuláris biológiai vizsgálata haemophilia A megbetegedésben.', Orvosi Hetilap, vol. 137, no. 46, pp. 2573-2575.
Bock I, Melegh B, Nagy A, Losonczy H, Csete B, Schröder W et al. A VIII. faktor génjének molekuláris biológiai vizsgálata haemophilia A megbetegedésben. Orvosi Hetilap. 1996 Nov 17;137(46):2573-2575.
Bock, I. ; Melegh, B. ; Nagy, A. ; Losonczy, H. ; Csete, B. ; Schröder, W. ; Kardos, M. ; István, L. ; Jager, R. ; Tóth, A. M. ; Tóth, A. ; Falko, H. ; Mózsik, G. / A VIII. faktor génjének molekuláris biológiai vizsgálata haemophilia A megbetegedésben. In: Orvosi Hetilap. 1996 ; Vol. 137, No. 46. pp. 2573-2575.
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AU - Losonczy, H.

AU - Csete, B.

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AU - István, L.

AU - Jager, R.

AU - Tóth, A. M.

AU - Tóth, A.

AU - Falko, H.

AU - Mózsik, G.

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