title: A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family.
authors.forename: M
authors.initials: M
authors.lastname: Montera
authors.forename: F
authors.initials: F
authors.lastname: Piaggio
authors.forename: C
authors.initials: C
authors.lastname: Marchese
authors.forename: V
authors.initials: V
authors.lastname: Gismondi
authors.forename: A
authors.initials: A
authors.lastname: Stella
authors.forename: N
authors.initials: N
authors.lastname: Resta
authors.forename: L
authors.initials: L
authors.lastname: Varesco
authors.forename: G
authors.initials: G
authors.lastname: Guanti
authors.forename: C
authors.initials: C
authors.lastname: Mareni
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology; D025601:Adenomatous Polyposis Coli Protein / Q000737:chemistry / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D003062:Codon; D020033:Protein Isoforms; D001120:Arginine