APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

doi:10.1007/BF00210303

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

Human genetics - 1 Dec 1995

van der Luijt R B, Vasen H F, Tops C M, Breukel C, Fodde R, Meera Khan P

Abstract excerpt

Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). Genotype-phenotype correlation studies in patients with FAP have demonstrated associations of certain variants of the disease with mutations at specific sites within the APC...

Topics

Adenoma
Adenomatous Polyposis Coli
Adenomatous Polyposis Coli Protein
Adolescent
Adult
Age of Onset
Aged
Alternative Splicing
Blotting, Western
Colon
Colorectal Neoplasms
Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exons

Female

Follow-Up Studies

Frameshift Mutation

Genes, APC

Genetic Carrier Screening

Source

Open in PubMed

Identifiers

PMID: 8522331
DOI: 10.1007/BF00210303

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8522331-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.PMID 8522331Read ↗

A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9.Semantic proximity Read ↗

A novel indel in exon 9 of APC upregulates a 'skip exon 9' isoform and causes very severe familial adenomatous polyposis.Semantic proximity Read ↗

Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis.Semantic proximity Read ↗

APC mutation associated with late onset of familial adenomatous polyposis.Semantic proximity Read ↗

A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype.Semantic proximity Read ↗

Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene.Semantic proximity Read ↗

Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.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 ↗

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.Semantic proximity Read ↗

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.Semantic proximity Read ↗

Genotype-phenotype correlations in attenuated adenomatous polyposis coli.Semantic proximity Read ↗

Alleles of the APC gene: an attenuated form of familial polyposis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.