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The rate of germline mutations and large deletions of <i>SMAD4 </i>and <i>BMPR1A </i>in juvenile polyposis

31 Dec 2008

Abstract excerpt

Juvenile polyposis (JPS) is an autosomal dominant syndrome that predisposes individuals to develop gastrointestinal polyps and cancer. Germline point mutations in SMAD4 and BMPR1A have been identified as causing JPS in approximately 40-60% of patients, but few studies have looked at the rate of large deletions. In this study, we determined the overall prevalence of genetic changes of SMAD4 and BMPR1A by...

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Identifiers

PMID: 18823382
DOI: 10.1111/j.1399-0004.2008.01091.x

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