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Article

Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

American journal of human genetics - 1 Feb 1993

Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Joslyn G, Samowitz W, Spirio L, Carlson M, Burt R

Abstract excerpt

Samples of constitutional DNA from 60 unrelated patients with adenomatous polyposis coli (APC) were examined for mutations in the APC gene. Five inactivating mutations were observed among 12 individuals with APC; all were different from the six inactivating mutations previously reported in this panel of patients. The newly discovered mutations included single-nucleotide substitutions leading to stop codons and...

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Identifiers

PMID: 8381579
PMCID: PMC1682192

Genes

APC

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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