Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

doi:10.1093/hmg/2.7.925

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Article

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

Human molecular genetics - 1 Jul 1993

Paul P, Letteboer T, Gelbert L, Groden J, White R, Coppes M J

Abstract excerpt

Germ-line mutations in the adenomatous polyposis coli (APC) gene result in familial adenomatous polyposis coli (APC), an inherited syndrome that predisposes affected individuals to early onset of colorectal cancer. Somatic APC mutations also have been detected in sporadic colon tumors. We have us...

Topics

Adenomatous Polyposis Coli
Base Sequence
DNA
DNA Mutational Analysis
DNA, Single-Stranded
Exons
Female
Frameshift Mutation
Genes, APC
Humans
Male
Nucleic Acid Conformation
Pedigree
Phenotype
Polymorphism, Genetic
Sequence Deletion

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