Article
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
The American journal of pathology - 1 Oct 2001
Woodford-Richens K L, Rowan A J, Poulsom R, Bevan S, Salovaara R, Aaltonen L A, Houlston R S, Wright N A, Tomlinson I P
Abstract excerpt
Juvenile polyposis syndrome (JPS; OMIM 174900) is a rare disorder which is characterized by the presence of hamartomatous polyps throughout the gastrointestinal tract and an increased risk of gastrointestinal malignancy. Mutations of the SMAD4 gene on chromosome 18q21.1 have been shown to cause a subset of JPS cases, with estimates ranging from 20% to >50%. Characterization of the genes that cause the remainder...
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