Skip to main content
Figure 4 | BMC Medical Genetics

Figure 4

From: Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique

Figure 4

Representative results from PCR-SSP analysis of different ENG (A) and ACVRL1 (B) mutations. Three of the 5 PCR-SSP systems for ENG mutations and 4 of the 10 PCR-SSP systems for ACVRL1 mutations are shown as examples. The specificity of PCR-SSP for the corresponding mutations was given by the absence of the specific PCR product in healthy controls (each lane 1) and presence of the PCR product in the HHT patient (each lane 2). The internal control fragment of 540 bp in size (arrow head) was present in each reaction (or at least where the PCR-SSP product was absent).

Back to article page