Sanger sequencing results for the three new identified variants. The id of each sample is in correspondence with that in Figure 1. The two arrows indicate positions of the nonsense SNP in FBN1 and the missense SNP in LRP1. For DSC2, the reverse chain was sequenced, and the identified deletion is shown in the red frame.
Li et al. Diagnostic Pathology 2014 9:25 doi:10.1186/1746-1596-9-25