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Article

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

Human mutation - 1 Jan 1992

Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen G M, Vogelstein B, Maher E, Ogawa M, Maruyama M, Utsunomiya J

Abstract excerpt

We report here the result of a screening for germ-line mutations in the adenomatous polyposis coli (APC) gene in 61 new familial adenomatous polyposis (FAP) patients as well as a summary of the results of 150 patients. Examination of the entire coding region of the APC gene, based on a ribonuclease protection assay coupled with the polymerase chain reaction (PCR), disclosed mutations that were considered to cause...

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Source

Identifiers

PMID: 1338764
DOI: 10.1002/humu.1380010603

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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Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.PMID 1338764Read ↗

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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 ↗

Detection of 12 germ-line mutations in the adenomatous polyposis coli gene by polymerase chain reaction.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 ↗

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