Skip to main content
. Author manuscript; available in PMC: 2013 Dec 1.
Published in final edited form as: Circ Cardiovasc Genet. 2012 Oct 11;5(6):666–675. doi: 10.1161/CIRCGENETICS.112.963587

Figure 1.

Figure 1

Capillary electrophoresis of Multiplex Ligation-dependent Probe Amplification LDLR probe products in the three patients found to have heterozygous deletions. Graylines show control data, while black linesshow data from the patients. Heterozygous deletions are indicated by peaks that are half as high as control peaks.A. A 25-year-old Hispanic woman with untreated LDL-C 339 mg/dL and premature arcussenilis was found to have heterozygous deletion of exons 4–6. B. A 47-year-old white man with xanthomas (untreated lipids not available) was found to have heterozygous deletion of promoter and exon 1. C. A 49-year-old African American man with untreated LDL-C 271 mg/dL, tendon xanthomas, and premature coronary heart disease was found to have heterozygous deletion of exon 7.