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Identification of Coding Exon 3 Duplication in the BMPR1A Gene in a Patient with Juvenile Polyposis Syndrome

16 Aug 2014

Abstract excerpt

Juvenile polyposis syndrome is an autosomal dominant inherited disorder characterized by multiple juvenile polyps arising in the gastrointestinal tract and an increased risk of gastrointestinal cancers, specifically colon cancer. BMPR1A and SMAD4 germline mutations have been found in patients with juvenile polyposis syndrome. We identified a BMPR1A mutation, which involves a duplication of coding exon 3...

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PMID: 25129392
DOI: 10.1093/jjco/hyu111

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