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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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Detalhes bibliográficos
Main Authors: Calva-Cerqueira, Daniel, Dahdaleh, Fadi S., Woodfield, George, Chinnathambi, Sathivel, Nagy, Peter L., Larsen-Haidle, Joy, Weigel, Ronald J., Howe, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Acesso em linha: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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