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Germline mutations in BMPR1A/ALK3 cause a subset of cases of Juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

Abstract:: 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-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS). Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. A series of familial and isolated European prob...
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APA Style

Zhou, X., Woodford-Richens, K., Lehtonen, R., Kurose, K., Aldred, M., Hampel, H., Launonen, V., Virta, S., Pilarski, R., Salovaara, R., Bodmer, W., Conrad, B., Dunlop, M., Hodgson, S., Iwama, T., Järvinen, H., Kellokumpu, I., Kim, J., Leggett, B., … Rozen, P. (2001). Germline mutations in BMPR1A/ALK3 cause a subset of cases of Juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. American Journal of Human Genetics, 69(4), 704–711.

MLA Style

Zhou, X., et al. “Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes.” American Journal of Human Genetics, vol. 69, no. 4, 2001, pp. 704–11.

Chicago Style

Zhou, X, K Woodford-Richens, R Lehtonen, K Kurose, M Aldred, H Hampel, V Launonen, et al. 2001. “Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes.” American Journal of Human Genetics 69 (4): 704–11.
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Publisher copy:: 10.1086/323703

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+ Woodford-Richens, K More by this author

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+ Lehtonen, R More by this author

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Bibliographic Details

Journal:: American Journal of Human Genetics
Volume:: 69
Issue:: 4
Pages:: 704-711
Publication date:: 2001-01-01
DOI:: 10.1086/323703
ISSN:: 0002-9297

Item Description

Language:: English
Pubs id:: pubs:178036
UUID:: uuid:6dca852a-a83f-49d6-9f32-fbec17f9e5b3
Local pid:: pubs:178036
Source identifiers:: 178036
Deposit date:: 2014-10-29

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Copyright date:: 2001

Licence:: Terms and Conditions of Use for Oxford University Research Archive

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