1. APC Germline Mutations in Individuals Being Evaluated for Familial Adenomatous Polyposis 
Sarah E. Kerr, Cheryl B. Thomas, Stephen N. Thibodeau, Matthew J. Ferber, Kevin C. Halling 
The Journal of Molecular Diagnostics 
Volume 15, Issue 1, Pages (January 2013)
DOI: /j.jmoldx
Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2. Figure 1
Large APC deletions and duplications detected by MLPA. MLPA probe locations are shown as stars on the APC exon-intron map (drawn to scale). Light horizontal bars indicate the estimated extent of deletions. Dark horizontal bars indicate the estimated extent of duplications. The height of the deletion/duplication bars indicates the number of times the abnormality was detected in this series (n = 1 unless marked).
The Journal of Molecular Diagnostics  , 31-43DOI: ( /j.jmoldx )
Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3. Figure 2 Frequency of pathogenic mutation types.
The Journal of Molecular Diagnostics  , 31-43DOI: ( /j.jmoldx )
Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4. Figure 3
Distribution of pathogenic or likely pathogenic APC mutations. The frequency of pathogenic or likely pathogenic genotypes is shown for each 50-codon stretch. The first codon altered by a truncating mutation was designated as the position for truncating mutations, the codon nearest to a splice site alteration as the position for intronic mutations, and the nearest upstream codon for deletions.
The Journal of Molecular Diagnostics  , 31-43DOI: ( /j.jmoldx )
Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions