Figure 1From: Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia Pedigree of the analyzed family and confirmation of mutation by Sanger sequencing. A) The index patient is IV.7. The family members selected for whole-exome sequencing are III.3, III.18, and IV.7. Elevated LDL-C levels are shown as half filled symbols. Mutation carriers are shown as G/A and non-carriers as G/G. B) Confirmation of the nucleotide substitution in the acceptor splice-site of exon 10, c.1359-1G > A by Sanger sequencing. Shown is the sequence of the index patient IV.7. The black arrow points to the heterozygote position.Back to article page