Journal article
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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- Publisher copy:
- 10.1126/science.280.5366.1086
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Authors
Bibliographic Details
- Journal:
- Science (New York, N.Y.)
- Volume:
- 280
- Issue:
- 5366
- Pages:
- 1086-1088
- Publication date:
- 1998-05-01
- DOI:
- EISSN:
-
1095-9203
- ISSN:
-
0036-8075
- Source identifiers:
-
72334
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:72334
- UUID:
-
uuid:f11a8696-e98a-47d3-b38d-c57efcbc637b
- Local pid:
- pubs:72334
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 1998
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