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Mutation spectrum of the APC gene in 83 Korean FAP families.

Human mutation - 1 Sept 2005

Kim Duck-Woo, Kim Il-Jin, Kang Hio Chung, Park Hye-Won, Shin Yong, Park Jae-Hyun, Jang Sang-Geun, Yoo Byong Chul, Lee Min Ro, Hong Chang Won, Park Kyu Joo, Oh Nahm-Gun, Kim Nam Kyu, Sung Moo Kyung, Lee Bong Wha, Kim Young Jin, Lee Hyucksang, Park Jae-Gahb

Abstract excerpt

Familial adenomatous polyposis (FAP) is a clinically well-defined hereditary disease caused by germline mutations in the adenomatous polyposis coli (APC) gene. FAP is characterized by polyposis in the large bowel and variable extracolonic manifestations. With an increase of reported APC germline mutations, many reports have investigated genotype-phenotype correlations in FAP patients. Here, we analyzed the APC...

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Source

Identifiers

PMID: 16088911
DOI: 10.1002/humu.9360

Genes

APC
FAP

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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