Two-Step Genetic Screening of Thrombophilia by Pyrosequencing
Author:
Affiliation:
1. Istituto Clinico Humanitas, Rozzano, Italy
2. Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, Italy
3. Dipartimento di Chimica e Biochimica Medica, Università di Milano, Segrate, Italy
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/51/7/1282/32683719/clinchem1282.pdf
Reference19 articles.
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2. Blasczyk R, Ritter M, Thiede C, Wehling J, Hintz G, Neubauer A, et al. Simple and rapid detection of factor V Leiden by allele-specific PCR amplification. Thromb Haemost1996;75:757-759.
3. Bortolin S, Black M, Modi H, Boszko I, Kobler D, Fieldhouse D, et al. Analytical validation of the Tag-It high-throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin Chem2004;50:2028-2036.
4. Schrijver I, Lay M, Zehnder J. Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G>A. A comparison of the Nanogen Eelectronic Microarray with restriction enzyme digestion and the Roche LightCycler. Am J Clin Pathol2003;119:490-496.
5. Liebman H, Sutherland D, Bacon R, McGehee W. Evaluation of a tissue factor dependent factor V assay to detect factor V Leiden: demonstration of high sensitivity and specificity for a generally applicable assay for activated protein C resistance. Br J Haematol1996;95:550-553.
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