A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe Marianne A. Stef, Lourdes.

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Presentation transcript:

A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe Marianne A. Stef, Lourdes Palacios, Estibaliz Olano-Martín, Carolyn Foe-A-Man, Laura van de Kerkhof, Lisette N. Klaaijsen, Araitz Molano, Ellen J. Schuurman, Diego Tejedor, Joep C. Defesche The Journal of Molecular Diagnostics Volume 15, Issue 3, Pages 362-372 (May 2013) DOI: 10.1016/j.jmoldx.2013.01.005 Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Schematic representation of the internal validation of LIPOchip, version 9. Chr, chromosome; CNV, copy number variation; MLPA, multiplex ligation-dependant probe amplification; QC, quality control. The Journal of Molecular Diagnostics 2013 15, 362-372DOI: (10.1016/j.jmoldx.2013.01.005) Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions