Journalartikel
Autorenliste: Wylenzek, C; Trübenbach, J; Gohl, P; Wildhardt, G; Alkins, S; Fausett, MB; Decker, J; Steinberger, D
Jahr der Veröffentlichung: 2005
Seiten: 343-346
Zeitschrift: Clinical and laboratory haematology
Bandnummer: 27
Heftnummer: 5
ISSN: 0141-9854
DOI Link: https://doi.org/10.1111/j.1365-2257.2005.00720.x
Verlag: Blackwell
Abstract:
In the differential diagnosis of thrombophilic disorders genotyping of prothrombin and factor V are nowadays performed as a routine analysis. In the following we describe the unusual results of the mutation screening using melting point analysis for two patients and the consecutive detection of the mutation C20209T by sequencing the corresponding gene fragments. The molecular result is discussed with special respect to the medical history, ethnic background and clinical findings of both patients.
Zitierstile
Harvard-Zitierstil: Wylenzek, C., Trübenbach, J., Gohl, P., Wildhardt, G., Alkins, S., Fausett, M., et al. (2005) Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system:: atypical results, detection of the variant C20209T and possible clinical implications, CLINICAL AND LABORATORY HAEMATOLOGY, 27(5), pp. 343-346. https://doi.org/10.1111/j.1365-2257.2005.00720.x
APA-Zitierstil: Wylenzek, C., Trübenbach, J., Gohl, P., Wildhardt, G., Alkins, S., Fausett, M., Decker, J., & Steinberger, D. (2005). Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system:: atypical results, detection of the variant C20209T and possible clinical implications. CLINICAL AND LABORATORY HAEMATOLOGY. 27(5), 343-346. https://doi.org/10.1111/j.1365-2257.2005.00720.x
Schlagwörter
DEEP VENOUS THROMBOSIS; ethnic origin; molecular genetic diagnostic; mutation detection systems; prothrombin variants