A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe

To facilitate genetic cascade screening for familial hypercholesterolemia (FH) in Europe, two versions (7 and 9) of a DNA microarray were developed to detect the most frequent point mutations in the low-density lipoprotein receptor ( LDLR ), apolipoprotein B ( APOB ), and proprotein convertase subti...

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Veröffentlicht in:	The Journal of molecular diagnostics : JMD 2013-05, Vol.15 (3), p.362-372
Hauptverfasser:	Stef, Marianne A, Palacios, Lourdes, Olano-Martín, Estibaliz, Foe-A-Man, Carolyn, van de Kerkhof, Laura, Klaaijsen, Lisette N, Molano, Araitz, Schuurman, Ellen J, Tejedor, Diego, Defesche, Joep C
Format:	Artikel
Sprache:	eng
Schlagworte:	Apolipoproteins B - genetics DNA Copy Number Variations Europe - epidemiology Exons Female Genetic Testing Humans Hyperlipoproteinemia Type II - epidemiology Hyperlipoproteinemia Type II - genetics Male Oligonucleotide Array Sequence Analysis - methods Pathology Point Mutation Proprotein Convertase 9 Proprotein Convertases - genetics Receptors, LDL - genetics Reproducibility of Results Serine Endopeptidases - genetics Spain - epidemiology
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