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Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

Abstract:

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 mutant SMAD4 proteins are predicted to be truncated at the carboxyl-terminus and la...

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Publication status:
Published

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Journal:
Science (New York, N.Y.)
Volume:
280
Issue:
5366
Pages:
1086-1088
Publication date:
1998-05-05
DOI:
EISSN:
1095-9203
ISSN:
0036-8075
URN:
uuid:f11a8696-e98a-47d3-b38d-c57efcbc637b
Source identifiers:
72334
Local pid:
pubs:72334

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