Observational Study
Copyright ©The Author(s) 2015.
World J Gastroenterol. Aug 21, 2015; 21(31): 9413-9419
Published online Aug 21, 2015. doi: 10.3748/wjg.v21.i31.9413
Table 2 Mutations in the APC gene: Relationship between genotype and phenotype in patients with familial adenomatous polyposis
FamiliesExonCodonMutationPhenotype1Ref.
Frameshift mutations
FAP1151061c.3183_3187delACAAAIntermediateFicari et al[18], Jarry et al[19]
FAP2151309c.3927_3931delAAAGASevereMiyoshi et al[20], Jarry et al[19]
FAP5151309c.3921_3925delAAAAGSevereMiyaki et al[21], Mulkens et al[22]
FAP1-FAP5151319c.3956delCSevereMiyaki et al[21]