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. 2013 Oct 9;22(6):741–747. doi: 10.1038/ejhg.2013.229

Figure 3.

Figure 3

Molecular characterization of SH3PXD2B. PCR analysis of genomic DNA spanning exon 12, the coding region of exon 13, the 3′UTR and a downstream intronic region of SH3PXD2B in BDCS3-affected patients (BDCS3-3, BDCS3-4) confirmed the deletion of exon 13. Reaction products for control and no template (NTC) are shown (a). Immunoblot analysis with a SH3PXD2B-specific antibody (1:200 Sigma-Aldrich #HPA036471) identified an ∼120-kDa protein in control fibroblasts (C1, C2, C3) that was absent in extracts from patient-derived fibroblasts (BDCS1-17, BDCS3-3/4). Analysis with an antibody directed against β-actin (1:5000 Sigma-Aldrich #A5441) confirmed equivalent protein loading (b).