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Article

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

Genomics - 1 Aug 1992

Fodde R, van der Luijt R, Wijnen J, Tops C, van der Klift H, van Leeuwen-Cornelisse I, Griffioen G, Vasen H, Khan P M

Abstract excerpt

Familial adenomatous polyposis (FAP) is a dominantly inherited condition predisposing to colorectal cancer. The recent isolation of the responsible gene (adenomatous polyposis coli or APC) has facilitated the search for germ line mutations in affected individuals. Previous authors have used the RNase protection assay and the single-strand conformation polymorphisms procedure to screen for mutations. In this study...

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Source

Identifiers

PMID: 1324223
DOI: 10.1016/0888-7543(92)90032-n

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

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Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.PMID 1324223Read ↗

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.Semantic proximity Read ↗

Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.Semantic proximity Read ↗

Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.Semantic proximity Read ↗

Molecular analysis of theAPC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysisSemantic proximity Read ↗

APC germline mutations identified in Czech patients with familial adenomatous polyposis.Semantic proximity Read ↗

Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene.Semantic proximity Read ↗

The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.Semantic proximity Read ↗

Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.Semantic proximity Read ↗

APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.Semantic proximity Read ↗

Seven novel mutations in the APC gene of Portuguese families with familial adenomatous polyposis: correlation with phenotype.Semantic proximity Read ↗

Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients.Semantic proximity Read ↗

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.Semantic proximity Read ↗

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