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Article

A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.

Journal of medical genetics - 1 Dec 2001

Eccles D, Harvey J, Bateman A, Ross F

Abstract excerpt

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Topics

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Share to Adenomatous Polyposis Coli
Share to Adenomatous Polyposis Coli Protein
Share to Chromosomes, Human, Pair 5
Share to Colonic Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Desmoid Tumors

Share to Genes, APC

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Share to Germ-Line Mutation

Source

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Identifiers

PMID: 11768389
DOI: 10.1136/jmg.38.12.861
PMCID: PMC1734779

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.PMID 11768389Read ↗

Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors.Semantic proximity Read ↗

Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals.Semantic proximity Read ↗

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.Semantic proximity Read ↗

Four novel germline mutations of the APC gene.Semantic proximity Read ↗

Somatic mutation of APC gene in desmoid tumour in familial adenomatous polyposis.Semantic proximity Read ↗

A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing.Semantic proximity Read ↗

3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors.Semantic proximity Read ↗

Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours.Semantic proximity Read ↗

Three novel APC gene mutations in Portuguese FAP kindreds.Semantic proximity Read ↗

Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous PolyposisSemantic proximity Read ↗

Hereditary Desmoid Disease in a Family with a Germline Alu I Repeat Mutation of the APC GeneSemantic proximity Read ↗

Desmoid tumour biology in patients with familial adenomatous polyposis coli.Semantic proximity Read ↗

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