Article
APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis.
Gut - 1 Apr 1997
Giardiello F M, Petersen G M, Piantadosi S, Gruber S B, Traboulsi E I, Offerhaus G J, Muro K, Krush A J, Booker S V, Luce M C, Laken S J, Kinzler K W, Vogelstein B, Hamilton S R
Abstract excerpt
BACKGROUND: Familial adenomatous polyposis (FAP) is caused by germline mutation of the adenomatous polyposis coli (APC) gene on chromosome 5q. AIMS: This study assessed genotype-phenotype correlations for extraintestinal lesions in FAP. METHODS: Mutations of the APC gene were compared with the occurrence of seven extraintestinal manifestations in 475 FAP patients from 51 families. The frequency of manifestations...
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