US Patent 6,423,491
United States Patent and Trademark Office
University of Iowa Research Foundation (Iowa City, IA, US)
Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. The present invention shows that JP families carry germline mutations in SMAD4/DPC4, a gene on chromosome 18q21.1. The mutant SMAD4 proteins are truncated at the carboxyl-terminus and lack sequences required for normal function. Methods and compositions for the detection and amelioration of FJP and gastrointestinal tumors are provided.
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Howe, James R and Aaltonen, Lauri A Method of diagnosing juvenile polyposis (JP). US Patent 6,423,491 filed May 13, 1999 and issued July 23, 2002. https://ir.uiowa.edu/patents/310