Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

doi:10.1016/0092-8674(93)90539-3

Back to search

Article

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

Cell - 3 Dec 1993

Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G

Abstract excerpt

In humans, alteration of the tumor suppressor gene, APC, causes adenomatous polyposis coli, a condition causing predisposition to colorectal cancer. The syndrome inconsistently associates characteristic patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE). Ocular examinatio...

Topics

Adenomatous Polyposis Coli
Alleles
Base Sequence
Chromosome Mapping
DNA Primers
Eye Diseases
Female
Frameshift Mutation
Humans
Male
Molecular Sequence Data
Pedigree
Pigment Epithelium of Eye
Point Mutation
Sequence Deletion

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.