Array-based resequencing for mutations causing familial hypercholesterolemia.

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a heterogeneous autosomal dominant disease with a prevalence of 1 in 500. To date, over 1200 unique pathogenic mutations have been identified in at least 3 genes. The large allelic and genetic heterogeneity of FH requires high-throughput, rapid, and affordable mutation detection technology to efficiently integrate molecular screening into clinical practice. We...

Topics

• Adult
• Apolipoproteins B
• Automation
• DNA Mutational Analysis
• Female
• Gene Deletion
• Humans
• Hyperlipoproteinemia Type II
• Male
• Middle Aged
• Mutation
• Oligonucleotide Array Sequence Analysis