2005
DOI: 10.1111/j.1365-2257.2005.00720.x
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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

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.

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Cited by 11 publications
(11 citation statements)
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“…4) and which has been noted at low frequency in the African-American population ($0.4%), probably acts as a modifier of thrombotic risk (Warshawsky et al 2002;Schrijver et al 2003;Itakura et al 2005;Soo et al 2005;Wylenzek et al 2005). This variant, if it is indeed of functional significance, should also increase the efficiency of pre-mRNA cleavage and polyadenylation.…”
Section: Variants That Have Occurred Within the Lasmentioning
confidence: 89%
“…4) and which has been noted at low frequency in the African-American population ($0.4%), probably acts as a modifier of thrombotic risk (Warshawsky et al 2002;Schrijver et al 2003;Itakura et al 2005;Soo et al 2005;Wylenzek et al 2005). This variant, if it is indeed of functional significance, should also increase the efficiency of pre-mRNA cleavage and polyadenylation.…”
Section: Variants That Have Occurred Within the Lasmentioning
confidence: 89%
“…The vast majority of clinically relevant analytes are biological macromolecules and in many 5 cases complex mixtures of related isoforms which are present at low concentration levels. It is of pivotal importance to understand the biomedical functionality to select and address the clinically relevant macromolecules/isoforms [21,22]. A clear definition of the analyte with regard to the intended clinical use of the measurement results is a necessary prerequisite for performing such determinations as well as to set up of a RMS [21,22].…”
Section: Definition Of the Analytementioning
confidence: 99%
“…It is of pivotal importance to understand the biomedical functionality to select and address the clinically relevant macromolecules/isoforms [21,22]. A clear definition of the analyte with regard to the intended clinical use of the measurement results is a necessary prerequisite for performing such determinations as well as to set up of a RMS [21,22]. Consequently the measurement procedure chosen and the properties of the reference materials used for calibration have a pronounced effect on the degree of standardisation, which can be achieved.…”
Section: Definition Of the Analytementioning
confidence: 99%
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