Multiplex PCR analysis and genotype-phenotype correlations of frequent APC mutations.

doi:10.1002/humu.1380050208

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Article

Multiplex PCR analysis and genotype-phenotype correlations of frequent APC mutations.

Human mutation - 1 Jan 1995

Cama A, Palmirotta R, Curia M C, Esposito D L, Ranieri A, Ficari F, Valanzano R, Battista P, Modesti A, Tonelli F

Abstract excerpt

Germline mutations of the adenomatous polyposis coli (APC) gene tend to cluster in discrete regions. Some of these mutations occur frequently in familial adenomatous polyposis coli (FAP) patients, and strategies for genetic diagnosis of the disease should include simple methods for their detection. We studied a total of 48 FAP-affected or "at-risk" members from 31 unrelated FAP pedigrees. Unrelated patients were...

Topics

Adenomatous Polyposis Coli
Adolescent
Adult
Alleles
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Family Health
Female
Gels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genes, APC

Genotype

Humans

Male

Molecular Sequence Data

Mutation

Nucleic Acid Heteroduplexes

Source

Open in PubMed

Identifiers

PMID: 7749413
DOI: 10.1002/humu.1380050208

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7749413-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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