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.
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