Research Article

Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype

Figure 3

In the FAP family pedigree, a heterozygous deletion was observed in exon 16 of the APC (NM_000038.6): c.3260_3261del: p.(Leu1087Glnfs31). Deletion of two bases (TC) causing a frame shift (a), b is the wild type, and c is the corresponding schematic diagram of genomic regions, transcripts, and products.
(a)
(b)
(c)