A protrombinkepzes orokletes variansa (F II 20 210 A): A trombozishajlam lehetseges oka

Translated title of the contribution: An inherited variant of the prothrombin production (F II 20 210 A): A possible couse of thhrombophilia

L. Szen, T. Kremmer, M. Horanyi, G. Sas

Research output: Contribution to journalArticle

Abstract

Introduction- The G to A transition at position 20 210 of the prothrombin gene was reported by Poort et al in November 1996. They found a correlation between the presence of the 20 210 A allele and an elevated prothrombin level. PATIENTS AND METHODS - Two members of a thrombophiliac family were examined for the F II 20 210 A gene mutation as a potencial cause of their disease with polymerase chain reaction and restriction enzime fragmentation. Two healthy controls were also examined. RESULTS - Both of the patients proved to have the 20 210 A prothrombin gene allele, the 20 210 A/G genotype. CONCLUSION - This mutation is a novel minor abnormality increasing the risk of thrombosis, which together with other defects cause the serious, inherited thrombophilia of this family.

Translated title of the contributionAn inherited variant of the prothrombin production (F II 20 210 A): A possible couse of thhrombophilia
Original languageHungarian
Pages (from-to)500-503
Number of pages4
JournalLege Artis Medicinae
Volume7
Issue number7-8
Publication statusPublished - Sep 26 1997

ASJC Scopus subject areas

  • Medicine(all)

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