Article
Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia.
Clinical chemistry - 1 Jul 2005
Tejedor Diego, Castillo Sergio, Mozas Pilar, Jiménez Elisa, López Mónica, Tejedor M Teresa, Artieda Marta, Alonso Rodrigo, Mata Pedro, Simón Laureano, Martínez Antonio, Pocoví Miguel
Abstract excerpt
BACKGROUND: Patients with familial hypercholesterolemia (FH) have a high risk of premature cardiovascular disease (PCVD). Mutations in the LDL receptor (LDLR) gene and the R3500Q mutation in the apolipoprotein B (APOB) gene are known to cause FH, but lack of high-throughput methods makes routine genetic diagnosis difficult. The objective of this work was to develop a DNA array for large-scale identification of...
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