Conclusions
The detection of large gene deletions and rearrangements in AT gene is essential in order to provide an appropriate genetic counseling and treatment in antithrombin deficient patients. We have developed a DHPLC method combined with a quantitative multiplex PCR as an approach to screen for large heterozygous gene rearrangements in AT gene. This technique turned out to be reliable, easy to perform, cost effective and can be well applied to other genetic disorders with heterozygous large defects.
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Pavlova, A. et al. (2006). Denaturing High Performance Liquid Chromatography Represents an Efficient Technique for Detection of Heterozygous Large Deletions in Antithrombin Gene. In: Scharrer, I., Schramm, W. (eds) 35th Hemophilia Symposium. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-28546-6_48
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DOI: https://doi.org/10.1007/3-540-28546-6_48
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