Fig. 2
From: A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
RNA and allele-specific analyses of the APC c.289G>A variant. a Gel electrophoresis analysis of RT-PCR products from an APC c.289G>A carrier and two controls (C1 and C2). b Sanger sequencing of the upper RT-PCR product. c Sanger sequencing of lower RT-PCR product. d Capillary electrophoresis analysis of the RT-PCR products from an APC c.289G>A carrier and two controls (C1 and C2). FL: Reference full-length transcript, 3p(− 70): Transcript lacking 70 bp of exon 3. e Sanger sequence of an RT-PCR product using primers designed to target the skipped region in exon 3 and to amplify the heterozygote c.289G>A variant in the carrier. The Sanger sequence show a monoallelic contribution of the wt allele