Article
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Science (New York, N.Y.) - 15 May 1998
Howe J R, Roth S, Ringold J C, Summers R W, Järvinen H J, Sistonen P, Tomlinson I P, Houlston R S, Bevan S, Mitros F A, Stone E M, Aaltonen L A
Abstract excerpt
Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway. The...
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