Article
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.
Gastroenterology - 1 Aug 2004
Burt Randall W, Leppert Mark F, Slattery Martha L, Samowitz Wade S, Spirio Lisa N, Kerber Richard A, Kuwada Scott K, Neklason Deborah W, Disario James A, Lyon Elaine, Hughes J Preston, Chey William Y, White Raymond L
Abstract excerpt
BACKGROUND & AIMS: An attenuated form of familial adenomatous polyposis has been described, but the phenotype remains poorly understood. METHODS: We performed genetic testing on 810 individuals from 2 attenuated familial adenomatous polyposis kindreds harboring an identical germline adenomatous polyposis coli gene mutation. Colonoscopy was performed on mutation-positive persons. RESULTS: The disease-causing...
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