Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-R...

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Main Authors: Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, Launonen, Virpi, Virta, Sanno, Pilarski, Robert, Salovaara, Reijo, Bodmer, Walter F., Conrad, Beth A., Dunlop, Malcolm, Hodgson, Shirley V., Iwama, Takeo, Järvinen, Heikki, Kellokumpu, Ilmo, Kim, J. C., Leggett, Barbara, Markie, David, Mecklin, Jukka-Pekka, Neale, Kay, Phillips, Robin, Piris, Juan, Rozen, Paul, Houlston, Richard S., Aaltonen, Lauri A., Tomlinson, Ian P. M., Eng, Charis
格式: Artigo
語言:Inglês
出版: The American Society of Human Genetics 2001
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226057/
https://ncbi.nlm.nih.gov/pubmed/11536076
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