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Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis

Juvenile polyposis (JP) is an autosomal dominant hamartomatous polyposis syndrome where affected individuals are predisposed to colorectal and upper gastrointestinal cancer. Forty-five percent of JP patients have mutations or deletions involving the coding regions of SMAD4 and BMPR1A, but the geneti...

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Autori principali: Calva-Cerqueira, Daniel, Dahdaleh, Fadi S., Woodfield, George, Chinnathambi, Sathivel, Nagy, Peter L., Larsen-Haidle, Joy, Weigel, Ronald J., Howe, James R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2972697/
https://ncbi.nlm.nih.gov/pubmed/20843829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq396
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