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Familial adenomatous polyposis is an autosomal dominantly inherited disorder. Mutation studies in the corresponding gene (APC) may provide information for predictive tests for persons at risk in affected families. We report here a new mutation in exon 6 (codon 233) of the APC gene and clinical data in a large family with late onset of the disease in most affected persons.


Journal article


J Med Genet

Publication Date





888 - 890


Adenomatous Polyposis Coli, Adolescent, Adult, Age of Onset, Base Sequence, Genes, APC, Haplotypes, Humans, Molecular Sequence Data, Mutation, Pedigree, Polymerase Chain Reaction, Polymorphism, Genetic