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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 on theme: "A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe  Marianne A. Stef, Lourdes."— Presentation transcript:

1 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 (May 2013) DOI: /j.jmoldx Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 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  , DOI: ( /j.jmoldx ) Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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