Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1136/jmg.31.11.888

Type

Journal article

Journal

J Med Genet

Publication Date

11/1994

Volume

31

Pages

888 - 890

Keywords

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