Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene.

doi:10.7326/0003-4819-126-7-199704010-00003

Article

Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene.

Annals of internal medicine - 1 Apr 1997

Giardiello F M, Brensinger J D, Luce M C, Petersen G M, Cayouette M C, Krush A J, Bacon J A, Booker S V, Bufill J A, Hamilton S R

Abstract excerpt

BACKGROUND: Germline mutation in a gene on chromosome 5 (the adenomatous polyposis coli gene) causes familial adenomatous polyposis of the colorectum. Phenotypic manifestations of this condition vary, but the exact relation of the phenotype to the mutation site along the gene has not been fully d...

Topics

Adenomatous Polyposis Coli
Female
Genes, APC
Germ-Line Mutation
Humans
Life Tables
Male
Phenotype
Prospective Studies

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