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Article

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

Proceedings of the National Academy of Sciences of the United States of America - 15 May 1992

Miyoshi Y, Ando H, Nagase H, Nishisho I, Horii A, Miki Y, Mori T, Utsunomiya J, Baba S, Petersen G

Abstract excerpt

We searched for germ-line mutations of the APC gene in 79 unrelated patients with familial adenomatous polyposis using a ribonuclease protection analysis coupled with polymerase chain reaction amplifications of genomic DNA. Mutations were found in 53 patients (67%); 28 of the mutations were small deletions and 2 were 1- to 2-base-pair insertions; 19 were point mutations resulting in stop codons and only 4 were...

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Source

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Identifiers

PMID: 1316610
DOI: 10.1073/pnas.89.10.4452
PMCID: PMC49100

Genes

APC

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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