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Identification of a novel <i>BMPR1A</i> germline mutation in a Korean juvenile polyposis patient without <i>SMAD4</i> mutation

1 Feb 2003

Abstract excerpt

Juvenile polyposis (JP) is characterized by the development of multiple hamartomatous polyps and is inherited as an autosomal dominant trait. Germline mutations of the SMAD4 gene have been reported in JP. We have previously identified three SMAD4 germline mutations in five Korean JP patients. Recently, germline mutations of the BMPR1A (ALK3) gene were reported in JP cases without SMAD4 mutations. In order to...

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PMID: 12630959
DOI: 10.1034/j.1399-0004.2003.00008.x

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