A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family.
Montera
M
M
Piaggio
F
F
Marchese
C
C
Gismondi
V
V
Stella
A
A
Resta
N
N
Varesco
L
L
Guanti
G
G
Mareni
C
C
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
D025601:Adenomatous Polyposis Coli Protein; D003062:Codon; D020033:Protein Isoforms; D001120:Arginine